ClinVar Miner

List of variants in gene C2CD3 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001286577.2(C2CD3):c.101A>C (p.Glu34Ala) rs2496711811 0.00001
NM_001286577.2(C2CD3):c.1844-12T>A
NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter) rs1382351297
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs) rs2496429489
NM_001286577.2(C2CD3):c.2_9del (p.Met1fs) rs2496722228
NM_001286577.2(C2CD3):c.3345-1G>A rs2496410381
NM_001286577.2(C2CD3):c.3434G>A (p.Arg1145His) rs779085623
NM_001286577.2(C2CD3):c.4001-5G>T
NM_001286577.2(C2CD3):c.4259G>T (p.Cys1420Phe)
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691

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.