ClinVar Miner

List of variants reported as benign for hereditary spherocytosis type 4 by Mendelics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)	rs5036	0.05002
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)	rs2285644	0.00284

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