ClinVar Miner

List of variants in gene ATP6V0A4 reported as pathogenic for distal renal tubular acidosis

Included ClinVar conditions (10):
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Gene type:
ClinVar version:
Total variants: 30
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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.1345C>T (p.Arg449Cys) rs370861594 0.00003
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765 0.00002
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1572G>A (p.Pro524=) rs773840097 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.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.1030-2A>C
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) rs1806006713
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.2140-61_2257+166del rs1803996097
NM_020632.3(ATP6V0A4):c.2446A>G (p.Lys816Glu) rs2117166533
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.727C>T (p.Arg243Ter)
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs) rs2117291505
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)

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