ClinVar Miner

List of variants in gene ATP6V1B1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
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.264G>A (p.Ala88=) rs147576439 0.00080
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
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.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 0.00010
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.511A>G (p.Ile171Val) rs782446537 0.00008
NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) rs371041253 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.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His) rs782110679 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 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.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.1249-11C>T rs782803276 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.875C>T (p.Thr292Met) rs141815629 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.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.1325A>G (p.Asp442Gly) rs1558680976 0.00001
NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser) rs1434098166 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.393G>A (p.Lys131=) rs1332086842 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.*211del rs886056276
NM_001692.4(ATP6V1B1):c.1025T>G (p.Ile342Ser) rs2104831947
NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)
NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) rs782264575
NM_001692.4(ATP6V1B1):c.1178C>G (p.Ser393Trp) rs1333081051
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) rs886056274
NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del) rs1219560039
NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His) rs1680689994
NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr) rs1680690845
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.172A>C (p.Lys58Gln) rs1553416813
NM_001692.4(ATP6V1B1):c.174+415G>A
NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu) rs1553415231
NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=) rs199559744
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del) rs1572920649
NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) rs1318500139
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001692.4(ATP6V1B1):c.611C>A (p.Ala204Glu)
NM_001692.4(ATP6V1B1):c.687+9A>G rs1680572519
NM_001692.4(ATP6V1B1):c.806C>A (p.Pro269Gln) rs145090491
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
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.931G>A (p.Val311Met) rs1558679896
NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=) rs886056272

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