List of variants reported as likely pathogenic for anemia by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)	rs121918634	0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)	rs143153871	0.00006
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)	rs80359094
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_001130053.5(EEF1D):c.1488+1G>A
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)	rs2148332084
NM_001360016.2(G6PD):c.235G>C (p.Asp79His)	rs2148331875
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)	rs2148331380
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)

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