ClinVar Miner

List of variants reported as pathogenic for hereditary spherocytosis type 4 by Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University

Included ClinVar conditions (4):

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
Hereditary spherocytosis type 4
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs)	rs2047398183
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	rs373916826
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	rs866727908
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)

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