Variants in gene DKC1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 10

Download table as spreadsheet

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.776A>C (p.His259Pro)	rs61757608	0.00316
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)	rs150319104	0.00192
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.1409AGA[2] (p.Lys472del)	rs781922569
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.