ClinVar Miner

List of variants in gene GFPT1 reported as uncertain significance for congenital myasthenic syndrome 12

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Total variants: 24
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HGVS dbSNP
NM_001244710.1(GFPT1):c.305C>A (p.Pro102His)
NM_002056.4(GFPT1):c.*22C>A rs199678034
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)
NM_002056.4(GFPT1):c.1908G>C (p.Lys636Asn) rs368208403
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.362T>C (p.Ile121Thr)
NM_002056.4(GFPT1):c.606-3C>T rs1286081479
NM_002056.4(GFPT1):c.791+6C>T rs767647134
NM_002056.4(GFPT1):c.848C>T (p.Ala283Val)
NM_002056.4(GFPT1):c.875A>T (p.His292Leu) rs1553389515

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