List of variants in gene ATP6V0A4 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 146

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HGVS	dbSNP	gnomAD frequency
NM_020632.3(ATP6V0A4):c.291+137C>T	rs7780807	0.95065
NM_020632.3(ATP6V0A4):c.639+218C>T	rs6467798	0.94030
NM_020632.3(ATP6V0A4):c.1181-214A>T	rs370078	0.91893
NM_020632.3(ATP6V0A4):c.2139+274G>A	rs3823501	0.77345
NM_020632.3(ATP6V0A4):c.1573-86T>C	rs1037692	0.74906
NM_020632.3(ATP6V0A4):c.1909-146C>T	rs3734941	0.73310
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=)	rs1026435	0.70010
NM_020632.3(ATP6V0A4):c.117+166del	rs35403428	0.69919
NM_020632.3(ATP6V0A4):c.1573-343G>A	rs6963404	0.69327
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala)	rs10258719	0.69303
NM_020632.3(ATP6V0A4):c.722+79T>C	rs296910	0.67396
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=)	rs3807154	0.65254
NM_020632.3(ATP6V0A4):c.1572+262C>T	rs3734939	0.59616
NM_020632.3(ATP6V0A4):c.1572+239A>G	rs3734938	0.56290
NM_020632.3(ATP6V0A4):c.2140-232T>G	rs999228	0.51291
NM_020632.3(ATP6V0A4):c.1691+199T>A	rs6962274	0.47646
NM_020632.3(ATP6V0A4):c.1691+271G>A	rs6962262	0.47600
NM_020632.3(ATP6V0A4):c.1573-326G>A	rs9642103	0.46619
NM_020632.3(ATP6V0A4):c.1908+285C>T	rs3778694	0.41117
NM_020632.3(ATP6V0A4):c.2140-170G>A	rs999229	0.34091
NM_020632.3(ATP6V0A4):c.1478+45G>A	rs55843107	0.33512
NM_020632.3(ATP6V0A4):c.2430-134T>C	rs12707394	0.28745
NM_020632.3(ATP6V0A4):c.1478+17A>G	rs6467797	0.25484
NM_020632.3(ATP6V0A4):c.-17-157T>C	rs28449329	0.24138
NM_020632.3(ATP6V0A4):c.291+173C>T	rs7780678	0.23175
NM_020632.3(ATP6V0A4):c.*239G>A	rs8846	0.22481
NM_020632.3(ATP6V0A4):c.2139+238C>T	rs3734942	0.21632
NM_020632.3(ATP6V0A4):c.2430-92C>T	rs73166921	0.21369
NM_020632.3(ATP6V0A4):c.1029+244A>T	rs66577110	0.21087
NM_020632.3(ATP6V0A4):c.291+221C>G	rs10239556	0.18079
NM_020632.3(ATP6V0A4):c.291+211G>C	rs10239429	0.18053
NM_020632.3(ATP6V0A4):c.513-114G>A	rs7810721	0.14717
NM_020632.3(ATP6V0A4):c.816+174G>A	rs3807147	0.13983
NM_020632.3(ATP6V0A4):c.722+271G>C	rs11770897	0.13918
NM_020632.3(ATP6V0A4):c.1908+195G>A	rs3778693	0.12332
NM_020632.3(ATP6V0A4):c.291+86T>A	rs62486966	0.11690
NM_020632.3(ATP6V0A4):c.512+87T>C	rs3823499	0.11561
NM_020632.3(ATP6V0A4):c.291+284del	rs113896063	0.11230
NM_020632.3(ATP6V0A4):c.291+279G>A	rs75636873	0.11208
NM_020632.3(ATP6V0A4):c.*162C>T	rs55832008	0.09943
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)	rs3807153	0.09195
NM_020632.3(ATP6V0A4):c.722+120T>G	rs11764089	0.07881
NM_020632.3(ATP6V0A4):c.817-132G>A	rs416119	0.06067
NM_020632.3(ATP6V0A4):c.1479-126C>T	rs79657869	0.05013
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=)	rs58568563	0.04932
NM_020632.3(ATP6V0A4):c.1909-295T>C	rs10230870	0.04812
NM_020632.3(ATP6V0A4):c.723-281G>A	rs3847125	0.04659
NM_020632.3(ATP6V0A4):c.817-231G>A	rs34872188	0.04355
NM_020632.3(ATP6V0A4):c.1691+296G>A	rs13246226	0.03798
NM_020632.3(ATP6V0A4):c.1692-49C>T	rs3807152	0.03786
NM_020632.3(ATP6V0A4):c.640-30C>T	rs531959766	0.03722
NM_020632.3(ATP6V0A4):c.1320+27T>C	rs73730499	0.03347
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr)	rs73730479	0.03249
NM_020632.3(ATP6V0A4):c.*111C>A	rs75920897	0.03190
NM_020632.3(ATP6V0A4):c.816+269T>A	rs75531115	0.03134
NM_020632.3(ATP6V0A4):c.118-220G>A	rs112777492	0.02976
NM_020632.3(ATP6V0A4):c.1908+142T>C	rs10247054	0.02936
NM_020632.3(ATP6V0A4):c.291+77C>G	rs10279589	0.02868
NM_020632.3(ATP6V0A4):c.1908+222C>T	rs10273800	0.02863
NM_020632.3(ATP6V0A4):c.1572+74G>A	rs80265580	0.02782
NM_020632.3(ATP6V0A4):c.1180+200C>T	rs75787221	0.02428
NM_020632.3(ATP6V0A4):c.512+4A>G	rs78194949	0.02390
NM_020632.3(ATP6V0A4):c.-17-269G>A	rs56728038	0.02276
NM_020632.3(ATP6V0A4):c.1321-190T>C	rs35974644	0.02261
NM_020632.3(ATP6V0A4):c.817-58C>T	rs74806135	0.02091
NM_020632.3(ATP6V0A4):c.292-42A>G	rs73463939	0.01889
NM_020632.3(ATP6V0A4):c.1479-41G>A	rs73730492	0.01759
NM_020632.3(ATP6V0A4):c.2258-161G>A	rs150688467	0.01723
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met)	rs61747678	0.01532
NM_020632.3(ATP6V0A4):c.722+45A>T	rs73463927	0.01483
NM_020632.3(ATP6V0A4):c.2011-334A>C	rs188554079	0.01431
NM_020632.3(ATP6V0A4):c.1908+269T>C	rs141741258	0.01244
NM_020632.3(ATP6V0A4):c.117+247C>T	rs113848354	0.01215
NM_020632.3(ATP6V0A4):c.723-163C>A	rs111576892	0.01115
NM_020632.3(ATP6V0A4):c.417+14G>C	rs141824671	0.01075
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=)	rs61747675	0.00981
NM_020632.3(ATP6V0A4):c.1692-238G>A	rs1011246	0.00978
NM_020632.3(ATP6V0A4):c.639+61C>T	rs73730502	0.00859
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=)	rs74921348	0.00681
NM_020632.3(ATP6V0A4):c.2430-159C>T	rs555283003	0.00637
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg)	rs61747681	0.00577
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr)	rs150777839	0.00506
NM_020632.3(ATP6V0A4):c.117+156G>A	rs554392108	0.00489
NM_020632.3(ATP6V0A4):c.1181-45G>A	rs150791653	0.00260
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly)	rs142818468	0.00084
NM_020632.3(ATP6V0A4):c.118-3T>A	rs186717040	0.00026
NM_020632.3(ATP6V0A4):c.1029+5G>A	rs147476317	0.00019
NM_020632.3(ATP6V0A4):c.2080C>T (p.Arg694Cys)	rs199650259	0.00006
NM_020632.3(ATP6V0A4):c.737T>A (p.Val246Asp)	rs757920987	0.00004
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)	rs763982675	0.00002
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys)	rs370861594	0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter)	rs754517968	0.00002
NM_020632.3(ATP6V0A4):c.1572G>A (p.Pro524=)	rs773840097	0.00001
NM_020632.3(ATP6V0A4):c.1593C>G (p.Asn531Lys)	rs1445192708	0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)	rs121908367	0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)	rs769164245	0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	rs28939081	0.00001
NM_020632.3(ATP6V0A4):c.-17-137del	rs199718487
NM_020632.3(ATP6V0A4):c.-17-153dup	rs199718487
NM_020632.3(ATP6V0A4):c.-17-179dup	rs58735261
NM_020632.3(ATP6V0A4):c.1006_1007del (p.Lys336fs)	rs1064796145
NM_020632.3(ATP6V0A4):c.1029+236G>C	rs28491851
NM_020632.3(ATP6V0A4):c.1029+257_1029+259del	rs11399212
NM_020632.3(ATP6V0A4):c.1029+259del	rs11399212
NM_020632.3(ATP6V0A4):c.1030-18dup	rs752113040
NM_020632.3(ATP6V0A4):c.1030-5del	rs752113040
NM_020632.3(ATP6V0A4):c.1107del (p.Asn370fs)
NM_020632.3(ATP6V0A4):c.118-80_118-79dup	rs540481545
NM_020632.3(ATP6V0A4):c.118-80dup	rs540481545
NM_020632.3(ATP6V0A4):c.1180+1del	rs1064796270
NM_020632.3(ATP6V0A4):c.1185del (p.Tyr396fs)	rs566440675
NM_020632.3(ATP6V0A4):c.1256T>G (p.Leu419Arg)	rs2485219550
NM_020632.3(ATP6V0A4):c.1320+180G>A	rs73730496
NM_020632.3(ATP6V0A4):c.1327A>T (p.Asn443Tyr)
NM_020632.3(ATP6V0A4):c.1573-327T>C	rs6963261
NM_020632.3(ATP6V0A4):c.1618A>G (p.Lys540Glu)	rs2117242912
NM_020632.3(ATP6V0A4):c.1631C>T (p.Ser544Leu)
NM_020632.3(ATP6V0A4):c.1692-99del	rs777775084
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr)	rs774244498
NM_020632.3(ATP6V0A4):c.1908+13dup	rs57692175
NM_020632.3(ATP6V0A4):c.1908+25del	rs57692175
NM_020632.3(ATP6V0A4):c.1908+71dup	rs1222586282
NM_020632.3(ATP6V0A4):c.1908+82_1908+83del	rs1222586282
NM_020632.3(ATP6V0A4):c.1954C>T (p.Pro652Ser)
NM_020632.3(ATP6V0A4):c.196+10dup	rs55813808
NM_020632.3(ATP6V0A4):c.196+22_196+25del	rs55813808
NM_020632.3(ATP6V0A4):c.196+23_196+25del	rs55813808
NM_020632.3(ATP6V0A4):c.196+24_196+25del	rs55813808
NM_020632.3(ATP6V0A4):c.196+25del	rs55813808
NM_020632.3(ATP6V0A4):c.2139+332G>A	rs77345506
NM_020632.3(ATP6V0A4):c.2257+254_2257+256del	rs35618960
NM_020632.3(ATP6V0A4):c.2258-159_2258-156dup	rs71179730
NM_020632.3(ATP6V0A4):c.2429+3A>C	rs780878155
NM_020632.3(ATP6V0A4):c.2430-173del	rs11308035
NM_020632.3(ATP6V0A4):c.2430-194dup	rs11308035
NM_020632.3(ATP6V0A4):c.2430-3C>T
NM_020632.3(ATP6V0A4):c.292-163GTCTGTGTGT[2]	rs535605039
NM_020632.3(ATP6V0A4):c.292-187GT[12]	rs3832464
NM_020632.3(ATP6V0A4):c.292-187GT[14]	rs3832464
NM_020632.3(ATP6V0A4):c.292-187GT[15]	rs3832464
NM_020632.3(ATP6V0A4):c.334C>T (p.Gln112Ter)	rs779869631
NM_020632.3(ATP6V0A4):c.418-216C>T	rs3734936
NM_020632.3(ATP6V0A4):c.639+65G>A	rs13230648
NM_020632.3(ATP6V0A4):c.640-29dup	rs72044473
NM_020632.3(ATP6V0A4):c.640-37dup	rs374733428
NM_020632.3(ATP6V0A4):c.723-80C>T	rs296911

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