ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for Limb-Girdle Muscular Dystrophy, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001243766.1(POMGNT1):c.2147C>T (p.Ala716Val) rs148903585
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1540-6C>T rs770449394
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218

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.