ClinVar Miner

List of variants in gene ATP6V1B1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
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.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.*6C>A rs45498896 0.01715
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223 0.00779
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
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.77T>C (p.Met26Thr) rs527738649 0.00023
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.591C>T (p.Ala197=) rs199914263 0.00019
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121 0.00018
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.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.423G>A (p.Ala141=) rs141969350 0.00010
NM_001692.4(ATP6V1B1):c.1061-13A>G rs200724195 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.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.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001692.4(ATP6V1B1):c.1211T>C (p.Met404Thr) rs782107153
NM_001692.4(ATP6V1B1):c.1394G>T (p.Arg465Leu) rs142905621
NM_001692.4(ATP6V1B1):c.317G>A (p.Cys106Tyr) rs727502893
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.904C>A (p.Arg302=) rs876657431

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