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

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Total variants: 11

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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.-40+2T>C	rs1593879845
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	rs80359271
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000617.3(SLC11A2):c.578C>T (p.Thr193Ile)
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_015937.6(PIGT):c.197del (p.Tyr66fs)	rs1555876283
NM_015937.6(PIGT):c.767_770del (p.Lys256fs)	rs776974834

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