ClinVar Miner

List of variants in gene ATP6V0A4 reported as uncertain significance for acidosis disorder

Included ClinVar conditions (5):
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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.196+4A>G
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
NM_020632.3(ATP6V0A4):c.2430-19G>A

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