ClinVar Miner

List of variants in gene DKC1 reported as benign for Dyskeratosis congenita

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Total variants: 11
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HGVS dbSNP
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104
NM_001363.5(DKC1):c.1494_1496GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772

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