ClinVar Miner

List of variants in gene ATP6V0A4 studied for distal renal tubular acidosis

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1573-86T>C rs1037692 0.74906
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_020632.3(ATP6V0A4):c.722+79T>C rs296910 0.68266
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_020632.3(ATP6V0A4):c.1478+45G>A rs55843107 0.33512
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) rs138627775 0.00136
NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) rs144172463 0.00081
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156 0.00065
NM_020632.3(ATP6V0A4):c.-29G>A rs145258624 0.00062
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124 0.00060
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170 0.00056
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_020632.3(ATP6V0A4):c.1977G>A (p.Pro659=) rs186997078 0.00024
NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) rs147512254 0.00020
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00018
NM_020632.3(ATP6V0A4):c.1669A>T (p.Ile557Phe) rs147301634 0.00016
NM_020632.3(ATP6V0A4):c.492A>G (p.Ala164=) rs201044613 0.00014
NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=) rs372230422 0.00013
NM_020632.3(ATP6V0A4):c.1893C>A (p.Pro631=) rs143558330 0.00012
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020632.3(ATP6V0A4):c.1030-14T>A rs758945742 0.00011
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671 0.00010
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020632.3(ATP6V0A4):c.-15C>T rs761118342 0.00008
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020632.3(ATP6V0A4):c.418-13C>G rs752531162 0.00008
NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) rs774810624 0.00007
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_020632.3(ATP6V0A4):c.790A>G (p.Asn264Asp) rs1386329721 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) rs201744457 0.00006
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_020632.3(ATP6V0A4):c.1908+10C>A rs368166747 0.00005
NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr) rs142860146 0.00005
NM_020632.3(ATP6V0A4):c.945C>T (p.Asp315=) rs775519861 0.00005
NM_020632.3(ATP6V0A4):c.1249G>A (p.Val417Met) rs530406140 0.00004
NM_020632.3(ATP6V0A4):c.1478+2T>G rs766587351 0.00004
NM_020632.3(ATP6V0A4):c.1681T>A (p.Phe561Ile) rs764911849 0.00004
NM_020632.3(ATP6V0A4):c.*180G>T rs1047422453 0.00003
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00003
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) rs777210633 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His) rs532107577 0.00003
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) rs750420028 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_020632.3(ATP6V0A4):c.427A>G (p.Asn143Asp) rs778873408 0.00002
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765 0.00002
NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys) rs1293966606 0.00002
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1572G>A (p.Pro524=) rs773840097 0.00001
NM_020632.3(ATP6V0A4):c.1593C>G (p.Asn531Lys) rs1445192708 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter) rs769417807 0.00001
NM_020632.3(ATP6V0A4):c.1876G>T (p.Asp626Tyr) rs201399022 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) rs886062012 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.2429+15C>G rs375581031 0.00001
NM_020632.3(ATP6V0A4):c.292-3T>A rs370441093 0.00001
NM_020632.3(ATP6V0A4):c.954G>A (p.Gln318=) rs1806293958 0.00001
NM_020632.3(ATP6V0A4):c.*24T>A rs746571093
NM_020632.3(ATP6V0A4):c.-120-12C>G rs891150779
NM_020632.3(ATP6V0A4):c.1000C>T (p.Arg334Cys)
NM_020632.3(ATP6V0A4):c.1001G>A (p.Arg334His)
NM_020632.3(ATP6V0A4):c.1030-2A>C
NM_020632.3(ATP6V0A4):c.1043C>G (p.Ser348Cys)
NM_020632.3(ATP6V0A4):c.1069G>A (p.Val357Met)
NM_020632.3(ATP6V0A4):c.1098T>C (p.Phe366=) rs886062013
NM_020632.3(ATP6V0A4):c.1137T>G (p.Ile379Met)
NM_020632.3(ATP6V0A4):c.1145C>T (p.Ala382Val)
NM_020632.3(ATP6V0A4):c.1181-14T>A
NM_020632.3(ATP6V0A4):c.1181-1G>A
NM_020632.3(ATP6V0A4):c.1181-9C>T
NM_020632.3(ATP6V0A4):c.1183C>T (p.Pro395Ser)
NM_020632.3(ATP6V0A4):c.1187dup (p.Tyr396Ter)
NM_020632.3(ATP6V0A4):c.1206del (p.Phe403fs)
NM_020632.3(ATP6V0A4):c.1216G>C (p.Ala406Pro)
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
NM_020632.3(ATP6V0A4):c.1248C>G (p.Thr416=)
NM_020632.3(ATP6V0A4):c.1271G>A (p.Trp424Ter)
NM_020632.3(ATP6V0A4):c.1275G>A (p.Met425Ile)
NM_020632.3(ATP6V0A4):c.1292G>T (p.Arg431Leu)
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) rs1806006713
NM_020632.3(ATP6V0A4):c.1316A>T (p.Asn439Ile)
NM_020632.3(ATP6V0A4):c.1320+3G>T
NM_020632.3(ATP6V0A4):c.1321A>T (p.Ile441Phe)
NM_020632.3(ATP6V0A4):c.1327A>T (p.Asn443Tyr)
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
NM_020632.3(ATP6V0A4):c.1342G>C (p.Gly448Arg)
NM_020632.3(ATP6V0A4):c.1346G>T (p.Arg449Leu)
NM_020632.3(ATP6V0A4):c.1384A>C (p.Thr462Pro)
NM_020632.3(ATP6V0A4):c.1404C>T (p.Asp468=)
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
NM_020632.3(ATP6V0A4):c.1453C>T (p.Pro485Ser)
NM_020632.3(ATP6V0A4):c.1478+2T>A
NM_020632.3(ATP6V0A4):c.1479-1G>A
NM_020632.3(ATP6V0A4):c.1490T>C (p.Met497Thr)
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
NM_020632.3(ATP6V0A4):c.1531G>T (p.Gly511Ter)
NM_020632.3(ATP6V0A4):c.1572+2T>C
NM_020632.3(ATP6V0A4):c.1573-1G>T
NM_020632.3(ATP6V0A4):c.1576T>A (p.Trp526Arg)
NM_020632.3(ATP6V0A4):c.1585G>C (p.Ala529Pro)
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1688A>T (p.His563Leu)
NM_020632.3(ATP6V0A4):c.1691+2T>G
NM_020632.3(ATP6V0A4):c.1692-7C>A
NM_020632.3(ATP6V0A4):c.1700G>A (p.Arg567Lys)
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1708C>T (p.Leu570Phe)
NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) rs1562989815
NM_020632.3(ATP6V0A4):c.1733C>T (p.Pro578Leu) rs1805106046
NM_020632.3(ATP6V0A4):c.173G>A (p.Cys58Tyr)
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.1807G>A (p.Val603Ile)
NM_020632.3(ATP6V0A4):c.1813G>A (p.Val605Ile)
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter) rs1464966535
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020632.3(ATP6V0A4):c.1908+12A>T rs1554393405
NM_020632.3(ATP6V0A4):c.1915G>A (p.Val639Ile)
NM_020632.3(ATP6V0A4):c.1952T>C (p.Val651Ala)
NM_020632.3(ATP6V0A4):c.1955C>T (p.Pro652Leu)
NM_020632.3(ATP6V0A4):c.196+4A>G
NM_020632.3(ATP6V0A4):c.196C>T (p.Arg66Cys)
NM_020632.3(ATP6V0A4):c.197-17G>A
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
NM_020632.3(ATP6V0A4):c.2011-2A>G
NM_020632.3(ATP6V0A4):c.2011-2A>T
NM_020632.3(ATP6V0A4):c.2051T>C (p.Ile684Thr)
NM_020632.3(ATP6V0A4):c.2080C>T (p.Arg694Cys)
NM_020632.3(ATP6V0A4):c.2084C>A (p.Ser695Tyr)
NM_020632.3(ATP6V0A4):c.2114G>A (p.Gly705Glu)
NM_020632.3(ATP6V0A4):c.2119C>G (p.Leu707Val)
NM_020632.3(ATP6V0A4):c.2123A>G (p.Asp708Gly)
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) rs1804439932
NM_020632.3(ATP6V0A4):c.2139+1G>T
NM_020632.3(ATP6V0A4):c.2139G>C (p.Glu713Asp)
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del rs1803996097
NM_020632.3(ATP6V0A4):c.217C>T (p.Gln73Ter)
NM_020632.3(ATP6V0A4):c.2215G>A (p.Ala739Thr)
NM_020632.3(ATP6V0A4):c.221del (p.Asn74fs)
NM_020632.3(ATP6V0A4):c.2227C>T (p.Arg743Trp)
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
NM_020632.3(ATP6V0A4):c.2230C>T (p.Leu744Phe)
NM_020632.3(ATP6V0A4):c.2258-3C>T
NM_020632.3(ATP6V0A4):c.2275T>C (p.Trp759Arg)
NM_020632.3(ATP6V0A4):c.2323A>G (p.Ile775Val)
NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) rs142313541
NM_020632.3(ATP6V0A4):c.2336_2346del (p.Phe779fs)
NM_020632.3(ATP6V0A4):c.2350G>A (p.Val784Ile)
NM_020632.3(ATP6V0A4):c.2390A>G (p.Glu797Gly)
NM_020632.3(ATP6V0A4):c.2426A>G (p.His809Arg)
NM_020632.3(ATP6V0A4):c.2429+3A>C
NM_020632.3(ATP6V0A4):c.2430-12C>A
NM_020632.3(ATP6V0A4):c.2430-19G>A
NM_020632.3(ATP6V0A4):c.2430G>A (p.Trp810Ter)
NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) rs137955459
NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu) rs2117166533
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.2479C>G (p.Pro827Ala)
NM_020632.3(ATP6V0A4):c.2515G>A (p.Glu839Lys)
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln) rs2117166318
NM_020632.3(ATP6V0A4):c.260C>A (p.Thr87Asn)
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.295G>C (p.Val99Leu)
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.387C>A (p.Tyr129Ter)
NM_020632.3(ATP6V0A4):c.417+11G>A
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.428A>G (p.Asn143Ser)
NM_020632.3(ATP6V0A4):c.502G>A (p.Gly168Arg)
NM_020632.3(ATP6V0A4):c.513-3T>C
NM_020632.3(ATP6V0A4):c.522del (p.Gly175fs)
NM_020632.3(ATP6V0A4):c.542G>C (p.Arg181Thr)
NM_020632.3(ATP6V0A4):c.556G>C (p.Glu186Gln)
NM_020632.3(ATP6V0A4):c.560G>A (p.Arg187Gln)
NM_020632.3(ATP6V0A4):c.571C>T (p.Arg191Ter)
NM_020632.3(ATP6V0A4):c.572G>T (p.Arg191Leu)
NM_020632.3(ATP6V0A4):c.588C>A (p.Asn196Lys)
NM_020632.3(ATP6V0A4):c.5T>A (p.Val2Glu) rs10258719
NM_020632.3(ATP6V0A4):c.616G>A (p.Ala206Thr)
NM_020632.3(ATP6V0A4):c.616_617delinsTT (p.Ala206Phe)
NM_020632.3(ATP6V0A4):c.638C>T (p.Thr213Met)
NM_020632.3(ATP6V0A4):c.639G>A (p.Thr213=)
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473
NM_020632.3(ATP6V0A4):c.646G>A (p.Glu216Lys)
NM_020632.3(ATP6V0A4):c.659A>G (p.Asn220Ser)
NM_020632.3(ATP6V0A4):c.671_673delinsAA (p.Ile224fs)
NM_020632.3(ATP6V0A4):c.683G>A (p.Gly228Glu)
NM_020632.3(ATP6V0A4):c.707A>G (p.Lys236Arg)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_020632.3(ATP6V0A4):c.722+1del
NM_020632.3(ATP6V0A4):c.727C>T (p.Arg243Ter)
NM_020632.3(ATP6V0A4):c.767G>A (p.Arg256His)
NM_020632.3(ATP6V0A4):c.785G>A (p.Ser262Asn)
NM_020632.3(ATP6V0A4):c.797G>T (p.Arg266Met)
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700
NM_020632.3(ATP6V0A4):c.816+9G>A
NM_020632.3(ATP6V0A4):c.816_817insA (p.Val273fs)
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs) rs2117291505
NM_020632.3(ATP6V0A4):c.833_834del (p.Glu278fs)
NM_020632.3(ATP6V0A4):c.952C>T (p.Gln318Ter)
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)
NM_020632.3(ATP6V0A4):c.977G>T (p.Trp326Leu)

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