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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.1083+1del
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)	rs776391208
NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)
NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)	rs116840807
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)	rs759314410
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)

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