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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 8

+ Genes associated with diseases 1

Genes at Omim

KMT2C,
KMT2C Kleefstra syndrome 2, 617768 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 8

Export to: CSV
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ARHGEF5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 7 rs766185415
dbSNP Clinvar 		144059763 911.73 A AT... . 0/1 48 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ARHGEF5|0.018074391|75.24%

CHDC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 X rs752519501,rs112700338
dbSNP Clinvar 		36162684 1243.73 C CTG . 1/1 48 FRAME_SHIFT+STOP_GAINED HIGH None 0.39417 0.39420 0.30015 None None None None None None None

CTC-241N9.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 5 rs1611076
dbSNP Clinvar 		179287622 2675.73 G GTA . 0/1 175 FRAME_SHIFT+STOP_GAINED HIGH None 0.48263 0.48260 None None None None None None C5orf45|0.001770546|91.6%

FAM166B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 9 rs142582869
dbSNP Clinvar 		35562393 1653.73 A ATAGT . 0/1 153 FRAME_SHIFT+STOP_GAINED HIGH None 0.11522 0.11520 0.04236 None None None None None None FAM166B|0.03665524|66.92%

KMT2C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 7 rs150073007
dbSNP Clinvar 		151945071 1695.73 G GT . 0/1 268 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

MROH8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 20 . 35807790 4845.73 G GC... . 1/2 91 FRAME_SHIFT+STOP_GAINED HIGH None 0.32368 None None None None None None MROH8|0.030021625|69.39%,RPN2|0.272886189|29.64%

WWTR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 3 rs112399999
dbSNP Clinvar 		149238595 2496.73 C CTTAA . 0/1 150 FRAME_SHIFT+STOP_GAINED HIGH None 0.11442 0.11440 0.10719 None None None None None None WWTR1|0.656667266|9.85%

ZNF717
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tz1 3 rs796859243
dbSNP Clinvar 		75787047 224.73 G GA... . 0/1 211 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%
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