ClinVar Miner

List of variants in gene GFPT1 reported as pathogenic for Congenital myasthenic syndrome 12

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Total variants: 14
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NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs)
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)
NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr) rs1574058076
NM_002056.4(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer) rs1574066599
NM_002056.4(GFPT1):c.685+210G>A rs1574066341
NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) rs1558749457

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