List of variants reported as pathogenic for DKC1-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001363.4(DKC1):c.-142C>G	rs199422241	0.00229
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	rs1060503011	0.00001
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)	rs1277350671
NM_001082486.2(ACD):c.250_252del (p.Lys84del)	rs797045144
NM_001082486.2(ACD):c.361del (p.Asp121fs)	rs1303559181
NM_001283009.2(RTEL1):c.1266+3_1266+80del	rs2090574236
NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)	rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)	rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)	rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del)	rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)	rs28936072
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)	rs199422252
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)	rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)	rs121912295
NM_001363.5(DKC1):c.1259+1G>A	rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	rs121912304
NM_001363.5(DKC1):c.16+592C>G	rs1603429348
NM_001363.5(DKC1):c.203A>G (p.His68Arg)	rs1557264102
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)	rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)	rs137854491

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.