ClinVar Miner

List of variants in gene ATP6V1A reported as pathogenic for autosomal recessive cutis laxa type 2d

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037

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