List of variants reported as uncertain significance for anemia by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)	rs201076728	0.00020
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)	rs146328911	0.00016
NM_001355436.2(SPTB):c.3764+8C>T	rs200257205	0.00005
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)	rs762052950	0.00004
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)	rs397507838	0.00001
NM_000096.4(CP):c.1036+15C>T
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu)	rs753642385
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)	rs754771000
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del)	rs1057517536
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu)	rs373107728

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