ClinVar Miner

List of variants in gene CDKN2A studied for cancer

Included ClinVar conditions (475):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.*29G>C rs11515 0.85710
NM_058195.4(CDKN2A):c.194-3810G>A rs3814960 0.49402
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.233_234del (p.Leu78fs) rs1819713922
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.5(CDKN2A):c.247C>G (p.His83Asp) rs121913385
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg) rs1057519881
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.292C>T (p.His98Tyr) rs1064793953
NM_000077.5(CDKN2A):c.296G>A (p.Arg99Gln) rs754806883
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr) rs104894104
NM_000077.5(CDKN2A):c.341C>A (p.Pro114His) rs121913386
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His) rs1563888782
NM_000077.5(CDKN2A):c.458-521G>T
NM_000077.5(CDKN2A):c.47_50del (p.Leu16fs) rs587782206
NM_058195.4(CDKN2A):c.194-3838A>G rs1819982421

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.