ClinVar Miner

List of variants in gene GNE reported as likely benign for GNE myopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_005476.7(GNE):c.*74G>A rs16933089 0.01338
NM_005476.7(GNE):c.*2211C>G rs150978860 0.01319
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_005476.7(GNE):c.*583G>A rs182741472 0.00279
NM_005476.7(GNE):c.*2056C>T rs183641957 0.00160
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_005476.7(GNE):c.*1635G>A rs190727651 0.00080
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005476.7(GNE):c.*2576A>G rs531142218 0.00063
NM_005476.7(GNE):c.*2789G>A rs140396892 0.00026
NM_005476.7(GNE):c.-152G>T rs142004500 0.00026
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00023
NM_005476.7(GNE):c.*2415T>A rs143569888 0.00017
NM_005476.7(GNE):c.*2269C>T rs575299401 0.00014
NM_005476.7(GNE):c.21C>T (p.Asn7=) rs774610596 0.00014
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005476.7(GNE):c.*1204T>C rs183365416 0.00004
NM_005476.7(GNE):c.*1021A>G rs10435799 0.00001
NM_005476.7(GNE):c.*277ATA[1] rs140089561
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627

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.