ClinVar Miner

List of variants reported as pathogenic for Hereditary spherocytosis type 1 by Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1305+1G>A
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)
NM_000037.4(ANK1):c.1602+1G>C
NM_000037.4(ANK1):c.2098-1G>T rs2150612992
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)
NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)
NM_000037.4(ANK1):c.3629+1G>C
NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) rs2150585752
NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) rs1228535558
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)
NM_000037.4(ANK1):c.886del (p.Ala296fs)

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