ClinVar Miner

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

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Total variants: 11
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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.209A>G (p.Asp70Gly) rs530830788 0.00002
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NC_000002.12:g.(?_69363535)_(69363680_?)del
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)
NM_001244710.2(GFPT1):c.408+5G>A rs1558762013
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768

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