ClinVar Miner

List of variants in gene ATP6V1B1 reported as uncertain significance for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) rs202215158 0.00020
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.1061-13A>G rs200724195 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
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.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001692.4(ATP6V1B1):c.1211T>C (p.Met404Thr) rs782107153
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1394G>T (p.Arg465Leu) rs142905621
NM_001692.4(ATP6V1B1):c.1513C>T (p.Gln505Ter) rs2104834953
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

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