ClinVar Miner

List of variants studied for congenital myasthenic syndrome 6 by Baylor Genetics

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00015
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) rs372760913 0.00004
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) rs769234940 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln) rs1049061686 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) rs369251527 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter) rs1458796820 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
NM_020549.5(CHAT):c.286+1G>T
NM_020549.5(CHAT):c.287-2A>G
NM_020549.5(CHAT):c.349del (p.Arg117fs) rs1198717023
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr) rs1838634644
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer) rs1838384543

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