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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
LIPT2,

+ Genes associated with diseases 1

Genes at Omim

LIPT2,
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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LIPT2
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 el-exome_s1 11 rs10736798
dbSNP Clinvar 		74204269 52.82 T G LowGQ;LowGQX 1/1 3 None None None 0.88319 0.88320 None None None None None None LIPT2|0.047637872|63.44%
View el-exome_s1 11 rs60455691
dbSNP Clinvar 		74204591 228.44 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.18051 0.18050 0.27 0.09 None None None None None None LIPT2|0.047637872|63.44%
View el-exome_s1 11 rs4944895
dbSNP Clinvar 		74204727 185.64 A G LowGQ;LowGQX 1/1 9 SYNONYMOUS_CODING LOW None 0.93271 0.93270 None None None None None None LIPT2|0.047637872|63.44%
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