ClinVar Miner

List of variants in gene ATP6V0A4 reported as likely pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)

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