ClinVar Miner

List of variants reported as likely pathogenic for Congenital myasthenic syndrome

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) rs1574007436
NM_000080.4(CHRNE):c.1016_1032+2dup
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
NM_001244710.2(GFPT1):c.739+1G>A
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005677.4(COLQ):c.870_871del (p.Cys291fs)
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs) rs1570190059

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