ClinVar Miner

List of variants reported as likely pathogenic for Myasthenic syndrome, congenital, 4a, slow-channel

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Total variants: 18
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HGVS dbSNP
NC_000017.10:g.(?_4801070_4804202del
NM_000080.4(CHRNE):c.1033-1G>C rs755303686
NM_000080.4(CHRNE):c.1220-1G>A
NM_000080.4(CHRNE):c.1220-1G>C
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu)
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829

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