ClinVar Miner

List of variants in gene SLC4A1 reported as likely pathogenic for autosomal dominant distal renal tubular acidosis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405

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