ClinVar Miner

List of variants in gene GFPT1 reported as pathogenic for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
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.41G>A (p.Arg14Gln) rs922548333 0.00001
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) rs1380136176 0.00001
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter) rs1574066341 0.00001
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) rs375268742 0.00001
NC_000002.11:g.(?_69553299)_(69614213_?)del
NC_000002.11:g.(?_69573016)_(69575486_?)del
NC_000002.11:g.(?_69583608)_(69583709_?)del
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr) rs1574058076
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs) rs2104617143
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) rs1024585946
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.224dup (p.Gln76fs) rs1671535986
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer) rs1574066599
NM_001244710.2(GFPT1):c.686-1G>A rs2104647624
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

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