List of variants reported as pathogenic for Autosomal recessive distal renal tubular acidosis

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)	rs763982675	0.00002
NM_020632.3(ATP6V0A4):c.816+1G>A	rs1450564765	0.00002
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.2140-61_2257+166del	rs1803996097
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)	rs1584934951

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