ClinVar Miner

List of variants studied for X-linked centronuclear myopathy by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095

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.