List of variants reported as pathogenic for congenital myasthenic syndrome 12 by OMIM

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Total variants: 8

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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.719G>A (p.Trp240Ter)	rs1574066341	0.00001
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr)	rs1574058076
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

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