List of variants in gene MTMR2 reported as uncertain significance by Inherited Neuropathy Consortium

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_016156.6(MTMR2):c.1131= (p.Thr377=)	rs566204	0.71637
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)	rs61735578	0.03636
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)	rs76784113	0.00069
NM_016156.6(MTMR2):c.1749G>A (p.Trp583Ter)	rs1590968942	0.00002
NM_016156.6(MTMR2):c.1343T>C (p.Leu448Pro)	rs1590978277
NM_016156.6(MTMR2):c.1534del (p.Leu512fs)	rs1590970977
NM_016156.6(MTMR2):c.1593+1G>A	rs1590970875
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)	rs1590997541
NM_016156.6(MTMR2):c.324del (p.Asn109fs)	rs1590997478
NM_016156.6(MTMR2):c.358-2A>T	rs1590997186
NM_016156.6(MTMR2):c.841_844del (p.Ile281fs)	rs1590983942
NM_016156.6(MTMR2):c.847C>T (p.Arg283Trp)	rs1590983932

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.