ClinVar Miner

List of variants in gene ATP6V0A2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
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.521+40C>T rs111865336 0.02008
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
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.1039-94C>A rs76451484 0.01168
NM_012463.4(ATP6V0A2):c.1190-115T>C rs112570022 0.01148
NM_012463.4(ATP6V0A2):c.732-247C>T rs112784463 0.01085
NM_012463.4(ATP6V0A2):c.1039-32T>A rs117654599 0.00964
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.*998T>C rs12298446 0.00401
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.*785T>C rs146660715 0.00262
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.1521C>T (p.Ser507=) rs142454880 0.00076
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.522-9G>A rs189175284 0.00036
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.1936-7C>T rs370135665 0.00028
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
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.118-7_118-3del rs777322469 0.00013
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.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729 0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G rs541441279 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.*2485C>T rs144043973 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.237T>C (p.Leu79=) rs369978210 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) rs917452697 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 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.234C>T (p.Pro78=) rs375372808 0.00003
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) rs374338507 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) rs759193879 0.00002
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) rs1308437998 0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685 0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) rs571286312 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00001
NM_012463.4(ATP6V0A2):c.1038+19C>T rs748475567 0.00001
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) rs751710968 0.00001
NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=) rs757645572 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1605+13C>T rs1031913267 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2294-6T>C rs756082099 0.00001
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=) rs199720540 0.00001
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=) rs1390474120 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.432+12C>T rs535259667 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) rs760832828 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 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.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.*2128_*2129del rs150303181
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1039-110A>C rs113442258
NM_012463.4(ATP6V0A2):c.1039-13G>A rs375793162
NM_012463.4(ATP6V0A2):c.1039-15T>C
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=)
NM_012463.4(ATP6V0A2):c.118-13A>G
NM_012463.4(ATP6V0A2):c.118-4T>C
NM_012463.4(ATP6V0A2):c.118-9T>G
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=)
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
NM_012463.4(ATP6V0A2):c.1326+7A>C
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup rs1593910803
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
NM_012463.4(ATP6V0A2):c.1515-9T>C
NM_012463.4(ATP6V0A2):c.1515-9T>G
NM_012463.4(ATP6V0A2):c.1605+10C>T
NM_012463.4(ATP6V0A2):c.1605+16T>G rs532950608
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) rs2135913544
NM_012463.4(ATP6V0A2):c.1724+11A>T
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
NM_012463.4(ATP6V0A2):c.196+15T>G rs1404046246
NM_012463.4(ATP6V0A2):c.196+8T>A
NM_012463.4(ATP6V0A2):c.197-14T>A
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
NM_012463.4(ATP6V0A2):c.2055+8C>T
NM_012463.4(ATP6V0A2):c.2055+9G>A
NM_012463.4(ATP6V0A2):c.2056-10T>C
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-14C>T
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
NM_012463.4(ATP6V0A2):c.2056-20T>C
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) rs962207534
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=) rs770098416
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
NM_012463.4(ATP6V0A2):c.2465+20T>C
NM_012463.4(ATP6V0A2):c.2466-10T>G
NM_012463.4(ATP6V0A2):c.2466-16C>G
NM_012463.4(ATP6V0A2):c.2466-16C>T
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
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>C (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+16C>A
NM_012463.4(ATP6V0A2):c.294+16C>T
NM_012463.4(ATP6V0A2):c.294+17G>A
NM_012463.4(ATP6V0A2):c.294+18A>G
NM_012463.4(ATP6V0A2):c.295-112del rs796749108
NM_012463.4(ATP6V0A2):c.295-17C>A rs1555296412
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.432+251T>C rs192821655
NM_012463.4(ATP6V0A2):c.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.521+14C>G rs747194853
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
NM_012463.4(ATP6V0A2):c.648+13C>T
NM_012463.4(ATP6V0A2):c.649-15A>G
NM_012463.4(ATP6V0A2):c.649-20T>C
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) rs767516975
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.732-23T>G rs2271660
NM_012463.4(ATP6V0A2):c.732-3C>T rs1371899202
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.826-14T>G rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.826-89GA[3]
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)

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