ClinVar Miner

List of variants in gene CDHR1 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) rs1554857529
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter) rs786205459
NM_033100.4(CDHR1):c.2246_2253del (p.Arg749fs) rs886044648
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.270dup (p.Thr91fs) rs878853347
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu) rs763399323
NM_033100.4(CDHR1):c.709del (p.Glu237fs) rs786205613
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345

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.