ClinVar Miner

List of variants in gene ATP6V0A2 reported by GeneDx

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Gene type:
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Total variants: 91
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HGVS dbSNP
NC_000012.12:g.123712055T>A rs767739299
NC_000012.12:g.123712159A>T rs111323913
NC_000012.12:g.123712166G>C rs115017792
NC_000012.12:g.123712167A>T rs116592138
NC_000012.12:g.123712188G>C rs7133734
NM_012463.3(ATP6V0A2):c.-227A>G rs561163813
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749
NM_012463.4(ATP6V0A2):c.117+17_117+20delinsTCT rs1555295264
NM_012463.4(ATP6V0A2):c.118-73G>A rs114594614
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.1852A>G (p.Arg618Gly) rs1057518488
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342
NM_012463.4(ATP6V0A2):c.1935+75T>C rs138200834
NM_012463.4(ATP6V0A2):c.1936-147C>T rs80175450
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665
NM_012463.4(ATP6V0A2):c.196+15T>G rs1404046246
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu) rs1555299234
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012463.4(ATP6V0A2):c.2055+252C>T rs7973463
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-333C>T rs7309294
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) rs962207534
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.2465+58T>C rs56862679
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.295-17C>A rs1555296412
NM_012463.4(ATP6V0A2):c.295-276del rs11326601
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789
NM_012463.4(ATP6V0A2):c.432+12C>T rs535259667
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144
NM_012463.4(ATP6V0A2):c.433-170A>G rs76993617
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.521+14C>G rs747194853
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp) rs940128206
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met) rs776619252
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431
NM_012463.4(ATP6V0A2):c.649-36G>A rs143993135
NM_012463.4(ATP6V0A2):c.732-287C>T rs10773030
NM_012463.4(ATP6V0A2):c.732-3C>T rs1371899202
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) rs199578524
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) rs775855556
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118

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