List of variants reported as pathogenic for hematologic disorder by Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000184.3(HBG2):c.85C>A (p.Leu29Met)	rs1278163109
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	rs1263969213
NM_000518.4(HBB):c.110C>A (p.Pro37His)	rs33993004
NM_000518.5(HBB):c.300T>A (p.Asp100Glu)	rs34013622
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr)	rs1597457977

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