ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spherocytosis type 1 by Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1A>G (p.Met1Val) rs1554627073

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