ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 6 by Invitae

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NC_000010.11:g.(?_49614170)_(49665066_?)del
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.406G>A (p.Val136Met) rs201479289
NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter)
NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) rs121912815
NM_020549.4(CHAT):c.669del (p.Gln223fs) rs1554802808
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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