List of variants reported as pathogenic for congenital myasthenic syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00149
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	rs377176361	0.00002
NM_001244710.2(GFPT1):c.686-2A>G	rs1011196447	0.00002
NM_005055.5(RAPSN):c.-210A>G	rs786200905	0.00002
NM_002334.4(LRP4):c.316+1G>A	rs780336679	0.00001
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	rs773526895
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	rs121908552
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	rs80338957
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	rs80338962
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	rs1555142142
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs)	rs606231132

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