ClinVar Miner

List of variants reported as benign for Severe combined immunodeficiency due to DCLRE1C deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896

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.