ClinVar Miner

List of variants reported as 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 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.2020del (p.Val674fs)

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