ClinVar Miner

List of variants reported as benign for hereditary skeletal muscle disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_078470.6(COX15):c.1209T>C (p.Asn403=) rs34652235 0.01341
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721 0.00915
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_001953.4(TYMP):c.929-6_929-3del rs201685922

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.