List of variants in gene SLC4A1 reported as likely pathogenic for BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
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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