ClinVar Miner

List of variants in gene ATP6V1B1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859
NM_001692.4(ATP6V1B1):c.*211del rs886056276
NM_001692.4(ATP6V1B1):c.*53G>A rs886056275
NM_001692.4(ATP6V1B1):c.*68C>T rs144725809
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896
NM_001692.4(ATP6V1B1):c.*80C>T rs117574187
NM_001692.4(ATP6V1B1):c.-17C>T rs202030952
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=) rs117826071
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1143+10T>C rs782112331
NM_001692.4(ATP6V1B1):c.119-10C>T rs782666539
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712
NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) rs886056274
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) rs373621560
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) rs376581983
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642
NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=) rs199559744
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874
NM_001692.4(ATP6V1B1):c.481_483GAG[1] (p.Glu162del)
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met) rs141815629
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=) rs886056272

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