ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532 0.00616
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001363.5(DKC1):c.771+13G>A rs201592812 0.00091
NM_001363.5(DKC1):c.172-12G>A rs376783942 0.00055
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001363.5(DKC1):c.978C>T (p.Gly326=) rs145325102 0.00013
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227 0.00004
NM_001363.5(DKC1):c.138G>A (p.Lys46=) rs369777662 0.00001
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
NM_001363.5(DKC1):c.84+19G>T
NM_001363.5(DKC1):c.936G>A (p.Gly312=)

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