ClinVar Miner

List of variants in gene ATP6V0A4 studied for auditory system disease

Included ClinVar conditions (549):
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Total variants: 98
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HGVS dbSNP
ATP6V0A4, 1-BP DEL, GLN276
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008
NM_020632.3(ATP6V0A4):c.*180G>T
NM_020632.3(ATP6V0A4):c.*239G>A rs8846
NM_020632.3(ATP6V0A4):c.*24T>A rs746571093
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825
NM_020632.3(ATP6V0A4):c.-120-12C>G
NM_020632.3(ATP6V0A4):c.-15C>T
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422
NM_020632.3(ATP6V0A4):c.-29G>A rs145258624
NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) rs774810624
NM_020632.3(ATP6V0A4):c.1029+5G>A
NM_020632.3(ATP6V0A4):c.1030-14T>A rs758945742
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) rs587776616
NM_020632.3(ATP6V0A4):c.1098T>C (p.Phe366=) rs886062013
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala)
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys)
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser)
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435
NM_020632.3(ATP6V0A4):c.1669A>T (p.Ile557Phe)
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)
NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) rs1562989815
NM_020632.3(ATP6V0A4):c.1733C>T (p.Pro578Leu)
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln)
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618
NM_020632.3(ATP6V0A4):c.1876G>T (p.Asp626Tyr)
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479
NM_020632.3(ATP6V0A4):c.1893C>A (p.Pro631=)
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020632.3(ATP6V0A4):c.1908+10C>A rs368166747
NM_020632.3(ATP6V0A4):c.1908+12A>T
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124
NM_020632.3(ATP6V0A4):c.1977G>A (p.Pro659=) rs186997078
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp)
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg)
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs)
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170
NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr)
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367
NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) rs886062012
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968
NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu)
NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) rs138627775
NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=) rs372230422
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081
NM_020632.3(ATP6V0A4):c.2429+15C>G
NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=)
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646
NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=)
NM_020632.3(ATP6V0A4):c.292-3T>A
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.417+14G>C
NM_020632.3(ATP6V0A4):c.418-13C>G rs752531162
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156
NM_020632.3(ATP6V0A4):c.492A>G (p.Ala164=) rs201044613
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949
NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) rs144172463
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681
NM_020632.3(ATP6V0A4):c.790A>G (p.Asn264Asp)
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp)
NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His)
NM_020632.3(ATP6V0A4):c.945C>T (p.Asp315=) rs775519861
NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) rs201744457
NM_020632.3(ATP6V0A4):c.954G>A (p.Gln318=)
NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys)

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