ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
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Total variants: 22
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HGVS dbSNP
CHAT, 2-BP INS, 523CC
NC_000010.11:g.(?_49614170)_(49665066_?)del
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) rs121912822
NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) rs121912816
NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) rs121912821
NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) rs121912817
NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter) rs369251527
NM_020549.4(CHAT):c.1669G>A (p.Ala557Thr) rs372760913
NM_020549.4(CHAT):c.1679G>A (p.Arg560His) rs121912819
NM_020549.4(CHAT):c.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter)
NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) rs121912820
NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) rs121912815
NM_020549.4(CHAT):c.669del (p.Gln223fs) rs1554802808
NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020549.5(CHAT):c.1007T>C rs121912823
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
NM_020549.5(CHAT):c.951del (p.Val318fs)

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