ClinVar Miner

List of variants in gene DKC1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.16+5G>A rs1242996115 0.00001
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.915+10G>A rs1603429509

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