ClinVar Miner

List of variants in gene LOC129992668, SLC4A4 studied for autosomal recessive proximal renal tubular acidosis

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003759.4(SLC4A4):c.31A>G (p.Ser11Gly) rs545021444 0.00011
NM_003759.4(SLC4A4):c.70T>A (p.Phe24Ile) rs200944017 0.00010
NM_003759.4(SLC4A4):c.41G>A (p.Gly14Glu)
NM_003759.4(SLC4A4):c.55G>T (p.Ala19Ser)
NM_003759.4(SLC4A4):c.59G>A (p.Arg20Gln)

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