ClinVar Miner

List of variants in gene ATP6V1A studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)

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