List of variants reported as uncertain significance for anemia by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	rs150624408	0.00026
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_000193.4(SHH):c.86G>C (p.Gly29Ala)	rs1313527438	0.00001
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)	rs2092396657
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)	rs765257824
NM_001271696.3(ABCB7):c.944+3A>G	rs2081385144
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)	rs2082930394
NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly)	rs1651109720
NM_003126.4:c.2899-50_4338+50del
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)	rs2065417308
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	rs372010149
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)

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