ClinVar Miner

List of variants in gene LOC126807073, SLC4A4 studied for autosomal recessive proximal renal tubular acidosis

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468 0.01254
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg) rs72650362 0.00264
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001098484.3(SLC4A4):c.1638T>C (p.Asn546=) rs143082796 0.00002
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) rs121908857 0.00001

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