ClinVar Miner

List of variants reported as pathogenic for Melanoma, cutaneous malignant, susceptibility to, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.145T>G (p.Tyr49Asp) rs137853080
NM_000455.5(STK11):c.256C>T (p.Arg86Ter) rs1057520039
NM_000455.5(STK11):c.403G>C (p.Gly135Arg) rs137853081
NM_000455.5(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.5(STK11):c.784A>T (p.Lys262Ter) rs2145426930
NM_198253.3(TERT):c.-124C>T rs1242535815

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.