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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)	rs150899388	0.00039
NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln)	rs763961763	0.00003
NM_000037.4(ANK1):c.2004del (p.Leu669fs)	rs2150616506
NM_000037.4(ANK1):c.2104dup (p.Tyr702fs)	rs2150612966
NM_000037.4(ANK1):c.2393_2403del (p.Val798fs)	rs2150605957
NM_000037.4(ANK1):c.3059_3066del (p.His1020fs)	rs2150594434
NM_000037.4(ANK1):c.3269del (p.Leu1090fs)	rs2150593284
NM_000037.4(ANK1):c.3629+2T>C	rs2150590331
NM_000037.4(ANK1):c.3775del (p.Tyr1259fs)	rs2150589601
NM_000037.4(ANK1):c.382_386del (p.Lys128fs)	rs2150661824
NM_000037.4(ANK1):c.3850del (p.Asp1284fs)	rs2150589472
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)	rs1187228917

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