ClinVar Miner

List of variants in gene MMUT reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278

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.