ClinVar Miner

List of variants reported as pathogenic for Hereditary spherocytosis type 1 by UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)	rs2150635518
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	rs2150585752
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs)	rs2150563560

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