ClinVar Miner

List of variants in gene ATP6V0A2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.2056-333C>T rs7309294 0.99192
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_012463.4(ATP6V0A2):c.294+217T>C rs9787987 0.66334
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_012463.4(ATP6V0A2):c.731+242A>G rs2271662 0.66048
NM_012463.4(ATP6V0A2):c.732-287C>T rs10773030 0.66031
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_012463.4(ATP6V0A2):c.732-168T>C rs2271661 0.59203
NM_012463.4(ATP6V0A2):c.433-195C>T rs882563 0.52536
NM_012463.4(ATP6V0A2):c.294+214C>T rs9788204 0.52368
NM_012463.4(ATP6V0A2):c.117+51A>C rs66647364 0.41348
NC_000012.12:g.123712059T>A rs117336016 0.33948
NC_000012.12:g.123712057T>A rs146184147 0.33882
NM_012463.4(ATP6V0A2):c.2465+58T>C rs56862679 0.12829
NM_012463.4(ATP6V0A2):c.2055+114A>G rs7956769 0.07450
NC_000012.12:g.123712067A>G rs11057336 0.07149
NM_012463.4(ATP6V0A2):c.2055+252C>T rs7973463 0.05355
NM_012463.3(ATP6V0A2):c.-399A>T rs116592138 0.05048
NM_012463.3(ATP6V0A2):c.-400G>C rs115017792 0.05038
NM_012463.4(ATP6V0A2):c.432+230C>T rs59540041 0.04800
NM_012463.4(ATP6V0A2):c.522-49A>G rs7962913 0.04773
NM_012463.4(ATP6V0A2):c.196+235G>A rs113239274 0.04730
NM_012463.3(ATP6V0A2):c.-407A>T rs111323913 0.04400
NM_012463.4(ATP6V0A2):c.433-117T>C rs74783839 0.04318
NM_012463.4(ATP6V0A2):c.1606-301G>A rs11836898 0.02575
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.3(ATP6V0A2):c.-511T>A rs767739299 0.02519
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.522-284G>C rs145118736 0.02316
NM_012463.4(ATP6V0A2):c.522-159T>C rs77181570 0.02312
NM_012463.4(ATP6V0A2):c.295-190G>A rs149640118 0.02279
NM_012463.4(ATP6V0A2):c.521+40C>T rs111865336 0.02008
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.433-170A>G rs76993617 0.01664
NM_012463.4(ATP6V0A2):c.1190-123C>T rs77220701 0.01575
NM_012463.4(ATP6V0A2):c.295-265G>A rs113418391 0.01537
NM_012463.4(ATP6V0A2):c.118-73G>A rs114594614 0.01368
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_012463.4(ATP6V0A2):c.1039-94C>A rs76451484 0.01168
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1190-115T>C rs112570022 0.01148
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_012463.4(ATP6V0A2):c.732-247C>T rs112784463 0.01085
NM_012463.4(ATP6V0A2):c.1039-32T>A rs117654599 0.00964
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NC_000012.12:g.123712122T>C rs115697861 0.00847
NM_012463.4(ATP6V0A2):c.649-36G>A rs143993135 0.00750
NM_012463.4(ATP6V0A2):c.522-306G>T rs149952976 0.00741
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_012463.4(ATP6V0A2):c.197-263T>C rs146464642 0.00617
NM_012463.4(ATP6V0A2):c.1936-147C>T rs80175450 0.00604
NM_012463.4(ATP6V0A2):c.826-217T>C rs74713525 0.00575
NM_012463.4(ATP6V0A2):c.2055+166C>G rs111986323 0.00524
NM_012463.4(ATP6V0A2):c.1039-127A>C rs560210864 0.00463
NM_012463.4(ATP6V0A2):c.433-60C>T rs139844022 0.00461
NM_012463.4(ATP6V0A2):c.197-283A>G rs149902738 0.00414
NM_012463.4(ATP6V0A2):c.732-102G>A rs115568485 0.00407
NM_012463.4(ATP6V0A2):c.1039-303C>T rs113438472 0.00383
NM_012463.4(ATP6V0A2):c.117+81G>T rs571330835 0.00379
NM_012463.4(ATP6V0A2):c.2175+267G>A rs189134797 0.00372
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00128
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581 0.00047
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) rs141310219 0.00030
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665 0.00028
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162 0.00019
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) rs763991801 0.00014
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) rs200463200 0.00011
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) rs139680786 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) rs778381327 0.00007
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221 0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) rs771839087 0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473 0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490 0.00004
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) rs149123235 0.00003
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) rs753589480 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp) rs940128206 0.00003
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) rs772170459 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) rs370299179 0.00002
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) rs760212304 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) rs754014350 0.00002
NM_012463.4(ATP6V0A2):c.2558A>G (p.Asp853Gly) rs767971908 0.00002
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) rs772179448 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) rs368924297 0.00002
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) rs1381866878 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu) rs751698448 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.432+12C>T rs535259667 0.00001
NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe) rs780455437 0.00001
NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met) rs776619252 0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His) rs1295585374 0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) rs946611542 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 0.00001
NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) rs775855556 0.00001
NC_000012.12:g.123712055AC[6] rs1188328972
NC_000012.12:g.123712055AC[8] rs1188328972
NC_000012.12:g.123712057AC[11] rs761076797
NC_000012.12:g.123712057AC[7] rs761076797
NC_000012.12:g.123712057AC[9] rs761076797
NC_000012.12:g.123712061AC[5] rs1344327382
NC_000012.12:g.123712061AC[6] rs1344327382
NC_000012.12:g.123712061AC[7] rs1344327382
NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1] rs1555295148
NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1] rs1246294062
NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1] rs1246294062
NM_012463.4(ATP6V0A2):c.1039-110A>C rs113442258
NM_012463.4(ATP6V0A2):c.1039-123del rs10715944
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr) rs2135909683
NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)
NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser) rs1956641918
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) rs911881776
NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu) rs2135910171
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg)
NM_012463.4(ATP6V0A2):c.1515-3_1515-2del rs2135910474
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs) rs2135879752
NM_012463.4(ATP6V0A2):c.196+15T>G rs1404046246
NM_012463.4(ATP6V0A2):c.196+173dup rs143201160
NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu) rs1555299234
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr)
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) rs962207534
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2293+168_2293+171del rs145776710
NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)
NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser) rs765645222
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.2466-73dup rs530511817
NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=) rs535703391
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.295-112del rs796749108
NM_012463.4(ATP6V0A2):c.295-112dup rs796749108
NM_012463.4(ATP6V0A2):c.295-17C>A rs1555296412
NM_012463.4(ATP6V0A2):c.295-276del rs11326601
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.432+251T>C rs192821655
NM_012463.4(ATP6V0A2):c.521+14C>G rs747194853
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_012463.4(ATP6V0A2):c.732-23T>G rs2271660
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.732-3C>T rs1371899202
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) rs199578524
NM_012463.4(ATP6V0A2):c.825+183A>C rs2333838
NM_012463.4(ATP6V0A2):c.826-89GA[3]
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517

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