ClinVar Miner

List of variants in gene ATP6V0A2 studied for not provided

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Total variants: 94
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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.1014G>A (p.Leu338=) rs917452697
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.1048G>A (p.Gly350Ser) rs768141782
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
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.1164C>T (p.Val388=) rs757645572
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg)
NM_012463.4(ATP6V0A2):c.118-73G>A rs114594614
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu) rs1240866102
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) rs760212304
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
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.1970C>T (p.Ala657Val) rs147641581
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu) rs1555299234
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012463.4(ATP6V0A2):c.2055+252C>T rs7973463
NM_012463.4(ATP6V0A2):c.2056-333C>T rs7309294
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) rs962207534
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=) rs770098416
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.2274G>A (p.Ala758=) rs1308437998
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992
NM_012463.4(ATP6V0A2):c.2294-6T>C rs756082099
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro)
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) rs375372808
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=) rs199720540
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=) rs369978210
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=) rs1390474120
NM_012463.4(ATP6V0A2):c.2465+58T>C rs56862679
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) rs1032324166
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.26C>T (p.Thr9Ile) rs752689489
NM_012463.4(ATP6V0A2):c.295-276del rs11326601
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) rs794727643
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869
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.432+12C>T rs535259667
NM_012463.4(ATP6V0A2):c.433-170A>G rs76993617
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376
NM_012463.4(ATP6V0A2):c.482T>G (p.Leu161Trp) rs750042310
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284
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.649-36G>A rs143993135
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402
NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val)
NM_012463.4(ATP6V0A2):c.732-287C>T rs10773030
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) rs199578524
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_012463.4(ATP6V0A2):c.825+2T>C rs398124257
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys) rs1217674662
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) rs775855556

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