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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)	rs1127051	0.07549
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.-19G>C	rs782563126	0.00062
NM_001363.5(DKC1):c.1431G>A (p.Lys477=)	rs3752356	0.00013
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.468T>A (p.Ile156=)	rs782504051	0.00001
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	rs199422254
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	rs1557265435
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.915+10G>A	rs1603429509

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