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

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.684C>T (p.Ser228=)	rs34307129	0.01960
NM_000530.8(MPZ):c.*568C>G	rs60731755	0.01265
NM_000530.8(MPZ):c.*195G>T	rs150182811	0.00828
NM_000530.8(MPZ):c.*1048A>T	rs71639057	0.00663
NM_000530.8(MPZ):c.504G>A (p.Val168=)	rs145592910	0.00074
NM_000530.8(MPZ):c.24C>T (p.Ser8=)	rs144841836	0.00037
NM_000530.8(MPZ):c.*743C>T	rs140992541	0.00031
NM_000530.8(MPZ):c.*52G>A	rs774701563	0.00014
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	rs202176679	0.00005
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)	rs530923760	0.00003
NM_000530.8(MPZ):c.449-9C>T	rs750530042	0.00002
NM_000530.8(MPZ):c.*1C>T	rs751066172	0.00001
NM_000530.8(MPZ):c.174C>T (p.Val58=)	rs753575261	0.00001
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)	rs779159258	0.00001
NM_000530.8(MPZ):c.-49C>A	rs750777955
NM_000530.8(MPZ):c.42G>A (p.Leu14=)	rs1670359930
NM_000530.8(MPZ):c.645+10A>G	rs1670232533

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.