ClinVar Miner

List of variants reported as uncertain significance for Hereditary spherocytosis type 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.1143del (p.Asn382fs)
NM_000037.4(ANK1):c.1228G>A (p.Val410Met)
NM_000037.4(ANK1):c.5395-1079G>A
NM_000037.4(ANK1):c.5395-1085T>G

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