List of variants reported as pathogenic for autosomal recessive proximal renal tubular acidosis

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His)	rs121908857	0.00001
NM_001098484.3(SLC4A4):c.*206G>A
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser)	rs121908856
NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)
NM_001098484.3(SLC4A4):c.2294del (p.Asn765fs)
NM_001098484.3(SLC4A4):c.277C>T (p.Arg93Ter)
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)	rs1553913019
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter)	rs121908858

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