ClinVar Miner

List of variants in gene CDHR1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.55+1G>A rs547198427 0.00036
NM_033100.4(CDHR1):c.2041-2A>C rs763740152 0.00001
NM_033100.4(CDHR1):c.439-1G>A rs916319156 0.00001
NM_033100.4(CDHR1):c.784-1G>C rs777305743 0.00001
NM_033100.4(CDHR1):c.1167+2T>C rs2132820982
NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter) rs786205459
NM_033100.4(CDHR1):c.1782+1G>A rs2492539884
NM_033100.4(CDHR1):c.1783-2A>G rs2132833489
NM_033100.4(CDHR1):c.2041-1G>C rs2492548014
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.297+1G>A rs1464226905
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu) rs763399323
NM_033100.4(CDHR1):c.526-1G>A rs1842129715
NM_033100.4(CDHR1):c.56-1G>A rs751972593
NM_033100.4(CDHR1):c.640-2A>T rs2132807272
NM_033100.4(CDHR1):c.709del (p.Glu237fs) rs786205613
NM_033100.4(CDHR1):c.862+1G>T rs2492505338
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_033100.4(CDHR1):c.964-1G>C rs773704365

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.