ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive proximal renal tubular acidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) rs200226048 0.00031
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00003
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400

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