List of variants in gene CDKN2A reported as likely pathogenic by Myriad Genetics, Inc.

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000077.5(CDKN2A):c.458-105A>G	rs1060501266	0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	rs104894097	0.00001
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	rs199907548
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	rs587778189
NM_000077.5(CDKN2A):c.150+1G>A	rs2131111833
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	rs876658534
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)	rs1060501260
NM_000077.5(CDKN2A):c.213C>A (p.Asn71Lys)	rs2131095688
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	rs121913385
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp)	rs137854599
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)	rs6413464
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	rs45476696

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.