ClinVar Miner

List of variants in gene PNPLA6 reported by Gharavi Laboratory, Columbia University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 0.00004
NM_001166114.2(PNPLA6):c.2324_2325del (p.Val775fs) rs1568418734
NM_001166114.2(PNPLA6):c.2715del (p.Thr906fs) rs1568419950
NM_001166114.2(PNPLA6):c.3035T>C (p.Leu1012Ser) rs1568420862
NM_001166114.2(PNPLA6):c.422del (p.Arg141fs) rs1568407023
NM_001166114.2(PNPLA6):c.925-1G>A rs1428600937

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