List of variants reported as pathogenic for Melanoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)	rs754613602	0.00003
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	rs104894094
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn)	rs121909233
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	rs121909232
NM_000314.8(PTEN):c.649G>A (p.Val217Ile)	rs121909234
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	rs869025340
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	rs113488022
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042

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.