List of variants reported by Research Group Niklas Dahl, Uppsala University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	rs144948296	0.00018
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)	rs750331613	0.00002
NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
NM_001011.4(RPS7):c.508-3T>G	rs1572360944
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)	rs1114167316
NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	rs376408289
NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	rs1305972382
NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)	rs2148539394
NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	rs762580458
NM_173630.4(RTTN):c.5648-5T>A	rs1256028809

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.