ClinVar Miner

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

Included ClinVar conditions (549):
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Gene type:
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Total variants: 14
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ATP6V0A4, 1-BP DEL, GLN276
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) rs587776616
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs)
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765

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