ClinVar Miner

List of variants reported as pathogenic for Hereditary spherocytosis type 1 by Department of Haematogenetics, ICMR National Institute of Immunohaematology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.2393_2403del (p.Val798fs) rs2150605957
NM_000037.4(ANK1):c.3629+2T>C rs2150590331
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) rs2150661824
NM_000037.4(ANK1):c.3850del (p.Asp1284fs) rs2150589472

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