ClinVar Miner

List of variants in gene ATP6AP1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_001183.6(ATP6AP1):c.289-135= rs11156577 0.77310
NM_001183.6(ATP6AP1):c.289-106T>C rs3737557 0.33185
NM_001183.6(ATP6AP1):c.924-113G>A rs113612593 0.13671
NM_001183.6(ATP6AP1):c.924-27A>G rs73638280 0.12445
NM_001183.6(ATP6AP1):c.923+332T>C rs73638279 0.11039
NM_001183.6(ATP6AP1):c.45G>A (p.Arg15=) rs28497482 0.10446
NM_001183.6(ATP6AP1):c.*261A>G rs8689 0.09230
NM_001183.6(ATP6AP1):c.288+240A>G rs112583729 0.04548
NC_000023.11:g.154428498T>G rs189401774 0.04303
NM_001183.6(ATP6AP1):c.226A>G (p.Thr76Ala) rs74526112 0.04298
NM_001183.6(ATP6AP1):c.*95A>G rs8425 0.03695
NM_001183.6(ATP6AP1):c.289-282G>A rs138749763 0.01917
NM_001183.6(ATP6AP1):c.1162A>C (p.Thr388Pro) rs140009552 0.00615
NM_001183.6(ATP6AP1):c.288+68C>G rs41311388 0.00571
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His) rs140841742 0.00241
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln) rs148803059 0.00122
NM_001183.6(ATP6AP1):c.927C>T (p.Leu309=) rs138927310 0.00081
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) rs201620814 0.00064
NM_001183.6(ATP6AP1):c.1011G>A (p.Arg337=) rs143004832 0.00035
NM_001183.6(ATP6AP1):c.1204-19G>A rs374255996 0.00021
NM_001183.6(ATP6AP1):c.165C>G (p.Asp55Glu) rs147496008 0.00020
NM_001183.6(ATP6AP1):c.700G>A (p.Ala234Thr) rs782677186 0.00020
NM_001183.6(ATP6AP1):c.1204-15C>T rs376716434 0.00019
NM_001183.6(ATP6AP1):c.344G>A (p.Ser115Asn) rs199872479 0.00015
NM_001183.6(ATP6AP1):c.1242C>T (p.Tyr414=) rs371590913 0.00009
NM_001183.6(ATP6AP1):c.124G>A (p.Glu42Lys) rs971978747 0.00007
NM_001183.6(ATP6AP1):c.417T>C (p.Tyr139=) rs782447190 0.00007
NM_001183.6(ATP6AP1):c.549C>T (p.Tyr183=) rs374882679 0.00007
NM_001183.6(ATP6AP1):c.989G>A (p.Arg330His) rs782330877 0.00006
NM_001183.6(ATP6AP1):c.1134C>T (p.Ser378=) rs372228206 0.00005
NM_001183.6(ATP6AP1):c.345C>T (p.Ser115=) rs782743847 0.00005
NM_001183.6(ATP6AP1):c.456C>T (p.Leu152=) rs782267711 0.00004
NM_001183.6(ATP6AP1):c.460G>A (p.Ala154Thr) rs191074164 0.00004
NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His) rs781936333 0.00003
NM_001183.6(ATP6AP1):c.1219G>A (p.Val407Ile) rs782410042 0.00003
NM_001183.6(ATP6AP1):c.541C>T (p.Leu181=) rs782690734 0.00003
NM_001183.6(ATP6AP1):c.599-5C>T rs782138982 0.00003
NM_001183.6(ATP6AP1):c.1157C>T (p.Ala386Val) rs200315745 0.00002
NM_001183.6(ATP6AP1):c.341A>G (p.Asp114Gly) rs782002491 0.00002
NM_001183.6(ATP6AP1):c.405C>T (p.Ala135=) rs782814983 0.00002
NM_001183.6(ATP6AP1):c.494G>A (p.Arg165Gln) rs782107550 0.00002
NM_001183.6(ATP6AP1):c.642T>C (p.Asp214=) rs1417412589 0.00002
NM_001183.6(ATP6AP1):c.84G>A (p.Val28=) rs2068677911 0.00002
NM_001183.6(ATP6AP1):c.1031G>T (p.Arg344Leu) rs781936333 0.00001
NM_001183.6(ATP6AP1):c.1203+14G>A rs781865181 0.00001
NM_001183.6(ATP6AP1):c.1203+3A>T rs781993994 0.00001
NM_001183.6(ATP6AP1):c.162-3C>T rs782424778 0.00001
NM_001183.6(ATP6AP1):c.198C>G (p.Gly66=) rs1326601070 0.00001
NM_001183.6(ATP6AP1):c.247G>A (p.Glu83Lys) rs1231716998 0.00001
NM_001183.6(ATP6AP1):c.289-19T>C rs782336286 0.00001
NM_001183.6(ATP6AP1):c.364-17C>T rs782400884 0.00001
NM_001183.6(ATP6AP1):c.421G>C (p.Val141Leu) rs1557196943 0.00001
NM_001183.6(ATP6AP1):c.473A>G (p.His158Arg) rs1201151700 0.00001
NM_001183.6(ATP6AP1):c.557+9C>T rs782179986 0.00001
NM_001183.6(ATP6AP1):c.656C>T (p.Ala219Val) rs782597304 0.00001
NM_001183.6(ATP6AP1):c.684+13C>G rs782396742 0.00001
NM_001183.6(ATP6AP1):c.716G>A (p.Gly239Glu) rs782527203 0.00001
NM_001183.6(ATP6AP1):c.972-14G>A rs371934768 0.00001
NC_000023.10:g.(?_153657039)_(153663552_?)dup
NC_000023.10:g.(?_153657039)_(153664237_?)dup
NM_001183.6(ATP6AP1):c.-2_3del (p.Met1fs) rs2148221583
NM_001183.6(ATP6AP1):c.1009C>T (p.Arg337Trp)
NM_001183.6(ATP6AP1):c.100_101insAGG (p.Ala33_Ala34insGlu)
NM_001183.6(ATP6AP1):c.1025T>C (p.Met342Thr)
NM_001183.6(ATP6AP1):c.1026G>A (p.Met342Ile)
NM_001183.6(ATP6AP1):c.102G>T (p.Ala34=)
NM_001183.6(ATP6AP1):c.1030C>T (p.Arg344Cys)
NM_001183.6(ATP6AP1):c.1035C>T (p.Leu345=)
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) rs878853277
NM_001183.6(ATP6AP1):c.1044C>T (p.His348=)
NM_001183.6(ATP6AP1):c.1049A>G (p.Asn350Ser)
NM_001183.6(ATP6AP1):c.1057G>A (p.Val353Ile)
NM_001183.6(ATP6AP1):c.1059C>T (p.Val353=)
NM_001183.6(ATP6AP1):c.1060G>A (p.Ala354Thr)
NM_001183.6(ATP6AP1):c.1061C>T (p.Ala354Val)
NM_001183.6(ATP6AP1):c.1070A>G (p.Asn357Ser)
NM_001183.6(ATP6AP1):c.1077C>T (p.Ser359=)
NM_001183.6(ATP6AP1):c.1078C>G (p.Gln360Glu)
NM_001183.6(ATP6AP1):c.1113C>T (p.Cys371=) rs1557197507
NM_001183.6(ATP6AP1):c.1118A>G (p.Tyr373Cys)
NM_001183.6(ATP6AP1):c.1135A>G (p.Lys379Glu)
NM_001183.6(ATP6AP1):c.113_124del (p.Ala38_Ala41del)
NM_001183.6(ATP6AP1):c.1140G>A (p.Lys380=) rs1603384548
NM_001183.6(ATP6AP1):c.114G>A (p.Ala38=)
NM_001183.6(ATP6AP1):c.1153G>A (p.Val385Met)
NM_001183.6(ATP6AP1):c.1155G>T (p.Val385=)
NM_001183.6(ATP6AP1):c.1160G>A (p.Arg387His)
NM_001183.6(ATP6AP1):c.1161C>T (p.Arg387=)
NM_001183.6(ATP6AP1):c.1164G>A (p.Thr388=)
NM_001183.6(ATP6AP1):c.116_124dup (p.Ala41_Glu42insAlaAlaAla)
NM_001183.6(ATP6AP1):c.117_119del (p.Ala41del)
NM_001183.6(ATP6AP1):c.117_122dup (p.Ala40_Ala41dup) rs1569553181
NM_001183.6(ATP6AP1):c.1187T>C (p.Met396Thr) rs973971109
NM_001183.6(ATP6AP1):c.1196A>G (p.Asp399Gly)
NM_001183.6(ATP6AP1):c.119C>T (p.Ala40Val)
NM_001183.6(ATP6AP1):c.11C>A (p.Ala4Asp)
NM_001183.6(ATP6AP1):c.1203+9C>T
NM_001183.6(ATP6AP1):c.1204-12T>C
NM_001183.6(ATP6AP1):c.1204-14dup
NM_001183.6(ATP6AP1):c.1204-20C>T
NM_001183.6(ATP6AP1):c.1213T>C (p.Phe405Leu) rs1557197567
NM_001183.6(ATP6AP1):c.1217A>T (p.Asn406Ile)
NM_001183.6(ATP6AP1):c.1218C>T (p.Asn406=)
NM_001183.6(ATP6AP1):c.1226G>C (p.Gly409Ala)
NM_001183.6(ATP6AP1):c.1243G>A (p.Ala415Thr)
NM_001183.6(ATP6AP1):c.1249G>A (p.Asp417Asn)
NM_001183.6(ATP6AP1):c.1272C>G (p.Pro424=)
NM_001183.6(ATP6AP1):c.1272C>T (p.Pro424=)
NM_001183.6(ATP6AP1):c.1273G>A (p.Gly425Ser)
NM_001183.6(ATP6AP1):c.1293C>T (p.Leu431=)
NM_001183.6(ATP6AP1):c.1307T>C (p.Met436Thr)
NM_001183.6(ATP6AP1):c.1311C>G (p.Leu437=) rs782610517
NM_001183.6(ATP6AP1):c.131A>G (p.Gln44Arg) rs2148221761
NM_001183.6(ATP6AP1):c.1326T>C (p.Tyr442=)
NM_001183.6(ATP6AP1):c.1397T>C (p.Leu466Ser)
NM_001183.6(ATP6AP1):c.13A>G (p.Met5Val)
NM_001183.6(ATP6AP1):c.161+11C>T
NM_001183.6(ATP6AP1):c.161+12G>A
NM_001183.6(ATP6AP1):c.161+13G>A
NM_001183.6(ATP6AP1):c.161+14G>A
NM_001183.6(ATP6AP1):c.161+8G>A rs2068678976
NM_001183.6(ATP6AP1):c.162-19C>A
NM_001183.6(ATP6AP1):c.162-9C>A
NM_001183.6(ATP6AP1):c.162-9C>T
NM_001183.6(ATP6AP1):c.179C>G (p.Ala60Gly)
NM_001183.6(ATP6AP1):c.17C>G (p.Ala6Gly)
NM_001183.6(ATP6AP1):c.184G>A (p.Asp62Asn)
NM_001183.6(ATP6AP1):c.18G>T (p.Ala6=) rs782480523
NM_001183.6(ATP6AP1):c.192T>C (p.His64=)
NM_001183.6(ATP6AP1):c.1A>C (p.Met1Leu)
NM_001183.6(ATP6AP1):c.201C>T (p.His67=)
NM_001183.6(ATP6AP1):c.202A>G (p.Ile68Val)
NM_001183.6(ATP6AP1):c.207C>T (p.Thr69=)
NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)
NM_001183.6(ATP6AP1):c.220C>G (p.Leu74Val)
NM_001183.6(ATP6AP1):c.222C>G (p.Leu74=)
NM_001183.6(ATP6AP1):c.241G>T (p.Ala81Ser)
NM_001183.6(ATP6AP1):c.245T>C (p.Leu82Pro) rs2148221963
NM_001183.6(ATP6AP1):c.249G>C (p.Glu83Asp)
NM_001183.6(ATP6AP1):c.25C>T (p.Arg9Ter) rs1557196220
NM_001183.6(ATP6AP1):c.273G>C (p.Leu91=)
NM_001183.6(ATP6AP1):c.288+5G>A rs2148221993
NM_001183.6(ATP6AP1):c.288+8C>T
NM_001183.6(ATP6AP1):c.289-16C>A
NM_001183.6(ATP6AP1):c.289-3T>C
NM_001183.6(ATP6AP1):c.289-8C>T
NM_001183.6(ATP6AP1):c.294C>A (p.Ser98Arg) rs2148223097
NM_001183.6(ATP6AP1):c.29T>A (p.Val10Glu)
NM_001183.6(ATP6AP1):c.314_316dup (p.Tyr105_Gly106insAsp)
NM_001183.6(ATP6AP1):c.318C>T (p.Gly106=)
NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)
NM_001183.6(ATP6AP1):c.319G>T (p.Gly107Cys)
NM_001183.6(ATP6AP1):c.328G>A (p.Gly110Arg) rs2148223116
NM_001183.6(ATP6AP1):c.352T>C (p.Ser118Pro)
NM_001183.6(ATP6AP1):c.353C>T (p.Ser118Phe)
NM_001183.6(ATP6AP1):c.35T>G (p.Met12Arg)
NM_001183.6(ATP6AP1):c.363+10C>T
NM_001183.6(ATP6AP1):c.363+14C>T
NM_001183.6(ATP6AP1):c.364-10_364-9del
NM_001183.6(ATP6AP1):c.364-19G>C
NM_001183.6(ATP6AP1):c.364-8G>A
NM_001183.6(ATP6AP1):c.369C>T (p.Ala123=)
NM_001183.6(ATP6AP1):c.379G>C (p.Ala127Pro) rs2148223321
NM_001183.6(ATP6AP1):c.37G>C (p.Gly13Arg)
NM_001183.6(ATP6AP1):c.390A>G (p.Ser130=)
NM_001183.6(ATP6AP1):c.394G>A (p.Val132Met)
NM_001183.6(ATP6AP1):c.403G>T (p.Ala135Ser)
NM_001183.6(ATP6AP1):c.406G>A (p.Val136Ile)
NM_001183.6(ATP6AP1):c.434C>T (p.Thr145Ile)
NM_001183.6(ATP6AP1):c.439T>C (p.Tyr147His) rs2148223383
NM_001183.6(ATP6AP1):c.441C>T (p.Tyr147=) rs1603384155
NM_001183.6(ATP6AP1):c.443T>C (p.Leu148Pro) rs2148223390
NM_001183.6(ATP6AP1):c.457G>A (p.Gly153Arg)
NM_001183.6(ATP6AP1):c.459G>A (p.Gly153=)
NM_001183.6(ATP6AP1):c.45= (p.Arg15=)
NM_001183.6(ATP6AP1):c.471G>A (p.Leu157=)
NM_001183.6(ATP6AP1):c.480C>T (p.Asp160=)
NM_001183.6(ATP6AP1):c.484G>C (p.Ala162Pro) rs2068698556
NM_001183.6(ATP6AP1):c.488C>A (p.Thr163Asn)
NM_001183.6(ATP6AP1):c.489C>A (p.Thr163=)
NM_001183.6(ATP6AP1):c.492G>A (p.Leu164=)
NM_001183.6(ATP6AP1):c.493C>A (p.Arg165=) rs782026906
NM_001183.6(ATP6AP1):c.498G>A (p.Glu166=)
NM_001183.6(ATP6AP1):c.499C>T (p.Leu167=) rs1603384165
NM_001183.6(ATP6AP1):c.500T>C (p.Leu167Pro)
NM_001183.6(ATP6AP1):c.507C>T (p.Leu169=)
NM_001183.6(ATP6AP1):c.509A>T (p.Asn170Ile) rs146873302
NM_001183.6(ATP6AP1):c.521C>G (p.Pro174Arg)
NM_001183.6(ATP6AP1):c.528GCT[1] (p.Leu178del)
NM_001183.6(ATP6AP1):c.538C>T (p.Arg180Cys)
NM_001183.6(ATP6AP1):c.539G>C (p.Arg180Pro)
NM_001183.6(ATP6AP1):c.540C>A (p.Arg180=)
NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg) rs1557196978
NM_001183.6(ATP6AP1):c.548A>G (p.Tyr183Cys)
NM_001183.6(ATP6AP1):c.552A>G (p.Thr184=)
NM_001183.6(ATP6AP1):c.557+10G>A
NM_001183.6(ATP6AP1):c.557+5T>C
NM_001183.6(ATP6AP1):c.557+6G>A
NM_001183.6(ATP6AP1):c.557+8_557+29del
NM_001183.6(ATP6AP1):c.558-1G>T rs2148223751
NM_001183.6(ATP6AP1):c.558-20G>A
NM_001183.6(ATP6AP1):c.558-9C>T
NM_001183.6(ATP6AP1):c.575C>A (p.Pro192His)
NM_001183.6(ATP6AP1):c.580G>A (p.Glu194Lys)
NM_001183.6(ATP6AP1):c.599-18C>T rs782702726
NM_001183.6(ATP6AP1):c.599-9G>A
NM_001183.6(ATP6AP1):c.601G>C (p.Glu201Gln)
NM_001183.6(ATP6AP1):c.604G>T (p.Val202Phe)
NM_001183.6(ATP6AP1):c.609C>T (p.Ile203=)
NM_001183.6(ATP6AP1):c.610G>A (p.Gly204Arg)
NM_001183.6(ATP6AP1):c.615G>A (p.Gln205=)
NM_001183.6(ATP6AP1):c.627A>C (p.Thr209=)
NM_001183.6(ATP6AP1):c.637G>A (p.Glu213Lys)
NM_001183.6(ATP6AP1):c.648A>G (p.Pro216=)
NM_001183.6(ATP6AP1):c.65G>T (p.Arg22Leu)
NM_001183.6(ATP6AP1):c.661C>T (p.Leu221Phe)
NM_001183.6(ATP6AP1):c.669G>A (p.Ala223=)
NM_001183.6(ATP6AP1):c.672C>A (p.Val224=)
NM_001183.6(ATP6AP1):c.684+8C>T
NM_001183.6(ATP6AP1):c.685-19T>A
NM_001183.6(ATP6AP1):c.68dup (p.Met23fs)
NM_001183.6(ATP6AP1):c.691C>T (p.Arg231Cys)
NM_001183.6(ATP6AP1):c.697G>A (p.Val233Ile)
NM_001183.6(ATP6AP1):c.699A>G (p.Val233=)
NM_001183.6(ATP6AP1):c.703G>A (p.Val235Met)
NM_001183.6(ATP6AP1):c.712G>A (p.Gly238Arg)
NM_001183.6(ATP6AP1):c.71C>G (p.Pro24Arg) rs1432010564
NM_001183.6(ATP6AP1):c.725G>A (p.Arg242His)
NM_001183.6(ATP6AP1):c.72G>A (p.Pro24=)
NM_001183.6(ATP6AP1):c.739A>C (p.Lys247Gln) rs781928490
NM_001183.6(ATP6AP1):c.739A>G (p.Lys247Glu)
NM_001183.6(ATP6AP1):c.744G>A (p.Gln248=)
NM_001183.6(ATP6AP1):c.759G>A (p.Val253=)
NM_001183.6(ATP6AP1):c.774G>A (p.Val258=)
NM_001183.6(ATP6AP1):c.781A>G (p.Asn261Asp) rs928791822
NM_001183.6(ATP6AP1):c.783T>C (p.Asn261=)
NM_001183.6(ATP6AP1):c.790G>A (p.Ala264Thr)
NM_001183.6(ATP6AP1):c.801C>T (p.Ile267=)
NM_001183.6(ATP6AP1):c.822C>T (p.Phe274=)
NM_001183.6(ATP6AP1):c.826G>T (p.Val276Leu)
NM_001183.6(ATP6AP1):c.82G>A (p.Val28Met)
NM_001183.6(ATP6AP1):c.830C>T (p.Ala277Val)
NM_001183.6(ATP6AP1):c.834C>T (p.Tyr278=)
NM_001183.6(ATP6AP1):c.837G>A (p.Lys279=)
NM_001183.6(ATP6AP1):c.849G>C (p.Glu283Asp)
NM_001183.6(ATP6AP1):c.861C>T (p.Pro287=)
NM_001183.6(ATP6AP1):c.872G>A (p.Gly291Glu)
NM_001183.6(ATP6AP1):c.880G>A (p.Glu294Lys)
NM_001183.6(ATP6AP1):c.883C>T (p.Leu295Phe)
NM_001183.6(ATP6AP1):c.910G>T (p.Asp304Tyr)
NM_001183.6(ATP6AP1):c.923+15C>G
NM_001183.6(ATP6AP1):c.923+7G>A
NM_001183.6(ATP6AP1):c.924-17T>C
NM_001183.6(ATP6AP1):c.930A>G (p.Ser310=)
NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys) rs878853278
NM_001183.6(ATP6AP1):c.944G>A (p.Arg315Gln)
NM_001183.6(ATP6AP1):c.945A>G (p.Arg315=)
NM_001183.6(ATP6AP1):c.953_963delinsACATTCAAGTGACAGGACTC (p.Gly318_Val321delinsAspIleGlnValThrGlyLeu) rs2148224789
NM_001183.6(ATP6AP1):c.957C>T (p.Thr319=)
NM_001183.6(ATP6AP1):c.96GGC[10] (p.Ala39_Ala41dup) rs781797236
NM_001183.6(ATP6AP1):c.96GGC[18] (p.Ala41_Glu42insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_001183.6(ATP6AP1):c.96GGC[4] (p.Ala39_Ala41del)
NM_001183.6(ATP6AP1):c.96GGC[5] (p.Ala40_Ala41del)
NM_001183.6(ATP6AP1):c.96GGC[6] (p.Ala41del) rs781797236
NM_001183.6(ATP6AP1):c.96GGC[8] (p.Ala41_Glu42insAla)
NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup) rs781797236
NM_001183.6(ATP6AP1):c.971+10G>A
NM_001183.6(ATP6AP1):c.971+13G>A
NM_001183.6(ATP6AP1):c.988C>T (p.Arg330Cys)
NM_001183.6(ATP6AP1):c.98C>T (p.Ala33Val)
NM_001183.6(ATP6AP1):c.9G>C (p.Ala3=)
NM_001183.6(ATP6AP1):c.9G>T (p.Ala3=)

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