ClinVar Miner

List of variants reported as pathogenic for acidosis disorder

Included ClinVar conditions (5):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671 0.00010
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) rs121908857 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter) rs769417807 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser) rs121908856
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter) rs121908858
NM_020632.3(ATP6V0A4):c.1030-2A>C
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) rs587776616
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter) rs1464966535
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) rs1804439932
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs) rs2117291505

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