ClinVar Miner

List of variants in gene ATP6V1B1 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: 242
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700 0.57743
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_001692.4(ATP6V1B1):c.1060+103G>A rs2072463 0.37308
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_001692.4(ATP6V1B1):c.1249-89C>T rs2270263 0.34451
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147 0.11515
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859 0.02854
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001692.4(ATP6V1B1):c.118+18C>T rs35768563 0.02289
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_001692.4(ATP6V1B1):c.-19C>T rs115563001 0.00542
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_001692.4(ATP6V1B1):c.-17C>T rs202030952 0.00210
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071 0.00058
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) rs145773738 0.00024
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) rs202215158 0.00020
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00019
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile) rs146293474 0.00017
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00014
NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=) rs112442277 0.00014
NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser) rs142881463 0.00013
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile) rs368854893 0.00012
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala) rs149910460 0.00012
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073 0.00012
NM_001692.4(ATP6V1B1):c.1378+10G>A rs782676816 0.00011
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00011
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=) rs145734697 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=) rs185606441 0.00009
NM_001692.4(ATP6V1B1):c.752T>G (p.Val251Gly) rs370481432 0.00009
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val) rs782446537 0.00008
NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) rs371041253 0.00007
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) rs151191933 0.00007
NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) rs531614845 0.00007
NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr) rs201630416 0.00006
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys) rs201325403 0.00006
NM_001692.4(ATP6V1B1):c.585+7C>G rs369075264 0.00006
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His) rs782110679 0.00006
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) rs376581983 0.00005
NM_001692.4(ATP6V1B1):c.940C>T (p.Arg314Cys) rs147187470 0.00005
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00005
NM_001692.4(ATP6V1B1):c.1121A>G (p.Asp374Gly) rs1329865941 0.00004
NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys) rs377624239 0.00004
NM_001692.4(ATP6V1B1):c.538G>A (p.Gly180Ser) rs267599435 0.00004
NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met) rs141815629 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.1249-11C>T rs782803276 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=) rs376089214 0.00003
NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=) rs782233102 0.00003
NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg) rs782554600 0.00002
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00002
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=) rs781880491 0.00002
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=) rs1045132687 0.00002
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581 0.00002
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) rs782484337 0.00001
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His) rs782166295 0.00001
NM_001692.4(ATP6V1B1):c.1143+10T>C rs782112331 0.00001
NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) rs370694539 0.00001
NM_001692.4(ATP6V1B1):c.119-10C>T rs782666539 0.00001
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=) rs782782168 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly) rs1558680976 0.00001
NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser) rs1434098166 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala) rs781842994 0.00001
NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=) rs782581074 0.00001
NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) rs373621560 0.00001
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001692.4(ATP6V1B1):c.318C>T (p.Cys106=) rs782720902 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=) rs1471681639 0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) rs782500780 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr) rs782807034 0.00001
NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His) rs782603735 0.00001
NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=) rs1553415239 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys) rs555708728 0.00001
NM_001692.4(ATP6V1B1):c.*211del rs886056276
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
NM_001692.4(ATP6V1B1):c.1003G>A (p.Val335Met)
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.1010G>T (p.Gly337Val)
NM_001692.4(ATP6V1B1):c.1021T>C (p.Ser341Pro)
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.104C>A (p.Thr35Asn)
NM_001692.4(ATP6V1B1):c.1059C>T (p.Asp353=)
NM_001692.4(ATP6V1B1):c.1061-12G>A
NM_001692.4(ATP6V1B1):c.1061-1G>T
NM_001692.4(ATP6V1B1):c.1061-7C>G
NM_001692.4(ATP6V1B1):c.1072C>G (p.Pro358Ala)
NM_001692.4(ATP6V1B1):c.109C>G (p.Pro37Ala)
NM_001692.4(ATP6V1B1):c.1100C>T (p.Thr367Ile)
NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)
NM_001692.4(ATP6V1B1):c.1115A>G (p.Tyr372Cys) rs2104832468
NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) rs782264575
NM_001692.4(ATP6V1B1):c.1143G>A (p.Gln381=)
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1178C>G (p.Ser393Trp) rs1333081051
NM_001692.4(ATP6V1B1):c.1180C>G (p.Arg394Gly)
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) rs1680670309
NM_001692.4(ATP6V1B1):c.119-7C>A
NM_001692.4(ATP6V1B1):c.1210A>G (p.Met404Val)
NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter) rs782151715
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1249-1G>C
NM_001692.4(ATP6V1B1):c.1249-3C>G
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) rs886056274
NM_001692.4(ATP6V1B1):c.1310C>T (p.Ala437Val)
NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del) rs1219560039
NM_001692.4(ATP6V1B1):c.1341dup (p.Phe448fs)
NM_001692.4(ATP6V1B1):c.1348C>T (p.Gln450Ter)
NM_001692.4(ATP6V1B1):c.1349del (p.Gln450fs) rs1558681020
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs) rs782549406
NM_001692.4(ATP6V1B1):c.1357G>A (p.Glu453Lys)
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1386C>A (p.Tyr462Ter)
NM_001692.4(ATP6V1B1):c.1387G>A (p.Glu463Lys)
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.1404dup (p.Glu469fs)
NM_001692.4(ATP6V1B1):c.1435C>T (p.Arg479Cys)
NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His) rs1680689994
NM_001692.4(ATP6V1B1):c.1448A>T (p.Lys483Met)
NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn) rs2104834809
NM_001692.4(ATP6V1B1):c.1465A>G (p.Ile489Val)
NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr) rs1680690845
NM_001692.4(ATP6V1B1):c.1466T>G (p.Ile489Ser)
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.1483G>T (p.Asp495Tyr) rs1558681213
NM_001692.4(ATP6V1B1):c.1493A>G (p.Tyr498Cys)
NM_001692.4(ATP6V1B1):c.1538T>C (p.Leu513Pro)
NM_001692.4(ATP6V1B1):c.154G>A (p.Val52Met)
NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln) rs1553416813
NM_001692.4(ATP6V1B1):c.174+3A>G
NM_001692.4(ATP6V1B1):c.174+415G>A
NM_001692.4(ATP6V1B1):c.174+5G>C
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) rs1680484812
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.196G>C (p.Val66Leu)
NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu) rs1553415231
NM_001692.4(ATP6V1B1):c.206C>T (p.Thr69Ile)
NM_001692.4(ATP6V1B1):c.212C>T (p.Pro71Leu)
NM_001692.4(ATP6V1B1):c.218G>C (p.Gly73Ala)
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.263C>T (p.Ala88Val)
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.274-2A>G
NM_001692.4(ATP6V1B1):c.274-72A>C rs967063
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
NM_001692.4(ATP6V1B1):c.313A>G (p.Thr105Ala)
NM_001692.4(ATP6V1B1):c.317G>A (p.Cys106Tyr) rs727502893
NM_001692.4(ATP6V1B1):c.319G>A (p.Glu107Lys)
NM_001692.4(ATP6V1B1):c.31G>A (p.Gly11Arg)
NM_001692.4(ATP6V1B1):c.329G>A (p.Gly110Glu)
NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=) rs199559744
NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs) rs1679840748
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.387C>A (p.Ser129=)
NM_001692.4(ATP6V1B1):c.388G>A (p.Gly130Ser)
NM_001692.4(ATP6V1B1):c.394C>G (p.Pro132Ala)
NM_001692.4(ATP6V1B1):c.3G>A (p.Met1Ile)
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)
NM_001692.4(ATP6V1B1):c.413T>G (p.Val138Gly)
NM_001692.4(ATP6V1B1):c.41G>C (p.Gly14Ala)
NM_001692.4(ATP6V1B1):c.445+6T>G
NM_001692.4(ATP6V1B1):c.446-1G>A
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del) rs1572920649
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.491T>C (p.Ile164Thr)
NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) rs1318500139
NM_001692.4(ATP6V1B1):c.536G>A (p.Arg179His)
NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670
NM_001692.4(ATP6V1B1):c.569G>C (p.Gly190Ala)
NM_001692.4(ATP6V1B1):c.574C>A (p.Pro192Thr)
NM_001692.4(ATP6V1B1):c.577C>G (p.His193Asp)
NM_001692.4(ATP6V1B1):c.583G>A (p.Glu195Lys)
NM_001692.4(ATP6V1B1):c.586-140G>A rs2072458
NM_001692.4(ATP6V1B1):c.59G>A (p.Gly20Asp)
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001692.4(ATP6V1B1):c.611C>A (p.Ala204Glu)
NM_001692.4(ATP6V1B1):c.649C>T (p.His217Tyr)
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) rs1553415274
NM_001692.4(ATP6V1B1):c.683T>C (p.Met228Thr)
NM_001692.4(ATP6V1B1):c.687+1G>A
NM_001692.4(ATP6V1B1):c.687+1G>T
NM_001692.4(ATP6V1B1):c.687+9A>G rs1680572519
NM_001692.4(ATP6V1B1):c.687G>A (p.Gly229=)
NM_001692.4(ATP6V1B1):c.68G>A (p.Arg23Gln)
NM_001692.4(ATP6V1B1):c.722A>T (p.Asp241Val)
NM_001692.4(ATP6V1B1):c.766A>C (p.Asn256His)
NM_001692.4(ATP6V1B1):c.793C>T (p.Arg265Trp)
NM_001692.4(ATP6V1B1):c.806C>A (p.Pro269Gln) rs145090491
NM_001692.4(ATP6V1B1):c.809G>A (p.Arg270His)
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.823A>C (p.Thr275Pro)
NM_001692.4(ATP6V1B1):c.83C>A (p.Ala28Glu)
NM_001692.4(ATP6V1B1):c.855G>T (p.Lys285Asn)
NM_001692.4(ATP6V1B1):c.877G>A (p.Asp293Asn)
NM_001692.4(ATP6V1B1):c.880A>G (p.Met294Val)
NM_001692.4(ATP6V1B1):c.893dup (p.Glu299fs)
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130
NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=) rs121964879
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) rs121964879
NM_001692.4(ATP6V1B1):c.923del (p.Arg308fs)
NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter) rs2104831698
NM_001692.4(ATP6V1B1):c.92G>A (p.Arg31Gln)
NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) rs1558679896
NM_001692.4(ATP6V1B1):c.938G>A (p.Gly313Glu)
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys)
NM_001692.4(ATP6V1B1):c.988G>T (p.Glu330Ter)
NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=) rs886056272

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