ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome with tubular aggregates by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) rs375268742 0.00001
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NC_000002.11:g.(?_69553299)_(69614213_?)del
NC_000002.11:g.(?_69573016)_(69575486_?)del
NC_000002.11:g.(?_69583608)_(69583709_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)del
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs) rs2104617143
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs) rs1553390600
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs) rs2104639109
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) rs1671813157
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter) rs2104635880
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter) rs1558749457
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328

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.