ClinVar Miner

List of variants in gene CNTN1 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=) rs1056019 0.62528
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=) rs935105 0.13920
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03490
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) rs2229930 0.03280
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02228
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00918
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) rs34346038 0.00913
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00558
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00438
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=) rs768838928 0.00001
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) rs767086250 0.00001
NM_001843.4(CNTN1):c.271T>C (p.Tyr91His) rs780622172 0.00001
NM_001843.4(CNTN1):c.2823+2TA[2] rs797045475

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.