ClinVar Miner

List of variants in gene ATP6V1B1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 55
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HGVS dbSNP gnomAD frequency
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.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 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.422C>T (p.Ala141Val) rs372842500 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.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val) rs782446537 0.00008
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.585+7C>G rs369075264 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00006
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.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg) rs782554600 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.113G>A (p.Arg38His) rs782166295 0.00001
NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) rs370694539 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.1386C>G (p.Tyr462Ter) rs1572924733 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.512T>C (p.Ile171Thr) rs782807034 0.00001
NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His) rs782603735 0.00001
NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys) rs555708728 0.00001
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln) rs1553416813
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu) rs1553415231
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670
NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) rs1558679896

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