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 0.03763
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) rs2229930 0.03222
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00980
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) rs34346038 0.00972
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00396
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=) rs768838928 0.00008
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.