ClinVar Miner

List of variants in gene PMP22 reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*200T>G
NM_000304.4(PMP22):c.*376C>T
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*890C>T
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.-86A>C
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.79-6C>T rs201682989

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.