ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.85-4G>A rs782787521
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494

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