List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported by University of Washington Center for Mendelian Genomics, University of Washington

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	rs146221660	0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	rs398123017	0.00003
NM_001283009.2(RTEL1):c.1482-1G>A	rs863225129
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)	rs748223349
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)	rs863225130
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)	rs863225053
NM_001283009.2(RTEL1):c.2413+1G>C	rs776744306
NM_001283009.2(RTEL1):c.958+2dup	rs869312855

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.