List of variants reported as pathogenic for anemia by DASA

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	rs199939108	0.00002
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter)	rs759026521
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)	rs1060502748

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