ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000037.4(ANK1):c.1702-2A>C rs1554567249
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1A>G (p.Met1Val) rs1554627073
NM_000037.4(ANK1):c.2098-1G>T rs2150612992
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter) rs538989808
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) rs1554522035
NM_000037.4(ANK1):c.534del (p.His178fs) rs1554578304

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