ClinVar Miner

List of variants in gene ATP6V1B1 studied for Inborn genetic diseases

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) rs145773738 0.00024
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00019
NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile) rs146293474 0.00017
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00013
NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser) rs142881463 0.00013
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00011
NM_001692.4(ATP6V1B1):c.1001G>A (p.Arg334His) rs782674150 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_001692.4(ATP6V1B1):c.860T>C (p.Val287Ala) rs375067328 0.00009
NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val) rs782446537 0.00008
NM_001692.4(ATP6V1B1):c.68G>A (p.Arg23Gln) rs782447716 0.00007
NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr) rs201630416 0.00006
NM_001692.4(ATP6V1B1):c.1448A>T (p.Lys483Met) rs147036242 0.00005
NM_001692.4(ATP6V1B1):c.196G>A (p.Val66Ile) rs146103071 0.00005
NM_001692.4(ATP6V1B1):c.882G>A (p.Met294Ile) rs936620695 0.00005
NM_001692.4(ATP6V1B1):c.944G>A (p.Arg315Gln) rs781890958 0.00005
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00005
NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met) rs141815629 0.00004
NM_001692.4(ATP6V1B1):c.83C>T (p.Ala28Val) rs200569195 0.00003
NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln) rs1553416813 0.00002
NM_001692.4(ATP6V1B1):c.251C>T (p.Ala84Val) rs781783326 0.00002
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys) rs202011016 0.00002
NM_001692.4(ATP6V1B1):c.583G>A (p.Glu195Lys) rs782455439 0.00002
NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys) rs555708728 0.00002
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His) rs782166295 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001692.4(ATP6V1B1):c.41G>C (p.Gly14Ala) rs782513986 0.00001
NM_001692.4(ATP6V1B1):c.76A>G (p.Met26Val) rs781815747 0.00001
NM_001692.4(ATP6V1B1):c.794G>A (p.Arg265Gln) rs1244407091 0.00001
NM_001692.4(ATP6V1B1):c.1012C>T (p.Arg338Trp)
NM_001692.4(ATP6V1B1):c.1032G>C (p.Gln344His) rs146844637
NM_001692.4(ATP6V1B1):c.1056C>A (p.Asn352Lys) rs558227714
NM_001692.4(ATP6V1B1):c.1076T>C (p.Ile359Thr) rs1249938424
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1266C>G (p.Ile422Met)
NM_001692.4(ATP6V1B1):c.1319C>G (p.Ser440Cys)
NM_001692.4(ATP6V1B1):c.1357G>A (p.Glu453Lys)
NM_001692.4(ATP6V1B1):c.1397C>T (p.Ser466Leu) rs781804904
NM_001692.4(ATP6V1B1):c.1405G>C (p.Glu469Gln) rs140980255
NM_001692.4(ATP6V1B1):c.218G>T (p.Gly73Val)
NM_001692.4(ATP6V1B1):c.311C>A (p.Thr104Asn) rs782387976
NM_001692.4(ATP6V1B1):c.317G>C (p.Cys106Ser) rs727502893
NM_001692.4(ATP6V1B1):c.335T>A (p.Ile112Asn)
NM_001692.4(ATP6V1B1):c.368G>A (p.Gly123Asp) rs2466286860
NM_001692.4(ATP6V1B1):c.40G>C (p.Gly14Arg) rs111306070
NM_001692.4(ATP6V1B1):c.419T>C (p.Met140Thr)
NM_001692.4(ATP6V1B1):c.513T>G (p.Ile171Met)
NM_001692.4(ATP6V1B1):c.592G>A (p.Ala198Thr)
NM_001692.4(ATP6V1B1):c.611C>T (p.Ala204Val) rs1553419944
NM_001692.4(ATP6V1B1):c.613G>A (p.Gly205Arg) rs1181802422
NM_001692.4(ATP6V1B1):c.683T>G (p.Met228Arg) rs782713423
NM_001692.4(ATP6V1B1):c.695T>C (p.Met232Thr)
NM_001692.4(ATP6V1B1):c.751G>A (p.Val251Ile) rs782653007
NM_001692.4(ATP6V1B1):c.790G>A (p.Glu264Lys) rs200839517
NM_001692.4(ATP6V1B1):c.793C>T (p.Arg265Trp)
NM_001692.4(ATP6V1B1):c.896A>G (p.Glu299Gly)
NM_001692.4(ATP6V1B1):c.983T>A (p.Ile328Asn)

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