List of variants reported as pathogenic for anemia by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)	rs147948835	0.00022
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)	rs1176654400	0.00001
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	rs80359271
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553

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