ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 12

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Total variants: 43
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HGVS dbSNP
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_001244710.1(GFPT1):c.305C>A (p.Pro102His)
NM_001244710.1(GFPT1):c.675C>T (p.Leu225=) rs78952091
NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_002056.3:c.223dupA
NM_002056.4(GFPT1):c.*22C>A rs199678034
NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr)
NM_002056.4(GFPT1):c.1051+1G>A rs1553389102
NM_002056.4(GFPT1):c.1124G>C (p.Gly375Ala) rs1553388425
NM_002056.4(GFPT1):c.1129A>G (p.Ser377Gly) rs1553388422
NM_002056.4(GFPT1):c.1133A>T (p.Tyr378Phe) rs1553388418
NM_002056.4(GFPT1):c.118G>T (p.Val40Leu)
NM_002056.4(GFPT1):c.1255T>A (p.Phe419Ile) rs766450555
NM_002056.4(GFPT1):c.134_154dup (p.Gly45_Glu51dup) rs1558773904
NM_002056.4(GFPT1):c.1429G>T (p.Ala477Ser) rs1438504838
NM_002056.4(GFPT1):c.1480G>A (p.Asp494Asn) rs1553386276
NM_002056.4(GFPT1):c.1507C>T (p.Arg503Cys) rs1421146245
NM_002056.4(GFPT1):c.1543+5A>G rs373420002
NM_002056.4(GFPT1):c.1865A>G (p.Lys622Arg)
NM_002056.4(GFPT1):c.1871A>T (p.Asp624Val) rs1553385828
NM_002056.4(GFPT1):c.1873A>G (p.Thr625Ala) rs772026265
NM_002056.4(GFPT1):c.1908G>C (p.Lys636Asn) rs368208403
NM_002056.4(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_002056.4(GFPT1):c.2001+3A>G rs937857366
NM_002056.4(GFPT1):c.209A>G (p.Asp70Gly) rs530830788
NM_002056.4(GFPT1):c.29A>G (p.Tyr10Cys) rs1553393940
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) rs201322234
NM_002056.4(GFPT1):c.362T>C (p.Ile121Thr)
NM_002056.4(GFPT1):c.408+5G>A rs1558762013
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.50G>A (p.Arg17Gln) rs775399768
NM_002056.4(GFPT1):c.606-3C>T rs1286081479
NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer)
NM_002056.4(GFPT1):c.685+210G>A
NM_002056.4(GFPT1):c.791+6C>T rs767647134
NM_002056.4(GFPT1):c.816C>T (p.Arg272=) rs754486756
NM_002056.4(GFPT1):c.848C>T (p.Ala283Val)
NM_002056.4(GFPT1):c.875A>T (p.His292Leu) rs1553389515
NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) rs1558749457
NM_002056.4(GFPT1):c.956-10A>G rs753072061
NM_005245.4(FAT1):c.2598_2599CA[1] (p.Thr867fs)

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