ClinVar Miner

List of variants reported as likely pathogenic for Familial infantile myasthenia

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Total variants: 63
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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_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.1492T>C (p.Ser498Pro) rs1409506586 0.00002
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.1516G>T (p.Val506Leu) rs121912817 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.841C>T (p.Arg281Trp) rs747108035 0.00001
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser) rs2132735749
NM_020549.5(CHAT):c.1112-1G>C
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1383-1G>A rs2132811750
NM_020549.5(CHAT):c.1383-2A>G
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1419del (p.Val474fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.1511+1G>A
NM_020549.5(CHAT):c.1511+2T>A
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1687C>T (p.Gln563Ter)
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) rs753652169
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile) rs1839995781
NM_020549.5(CHAT):c.1775dup (p.Ala593fs)
NM_020549.5(CHAT):c.1776+1G>C
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1916C>T (p.Pro639Leu)
NM_020549.5(CHAT):c.196_198delinsGG (p.Arg66fs)
NM_020549.5(CHAT):c.1977+1_1977+9del rs1207292931
NM_020549.5(CHAT):c.1978-1G>A
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
NM_020549.5(CHAT):c.258_271dup (p.Glu91fs)
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.451_466dup (p.Glu156delinsAlaThrLeuGlyValTer)
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter) rs1838635016
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.5(CHAT):c.698+1G>A
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.698+2T>C
NM_020549.5(CHAT):c.753-1G>C
NM_020549.5(CHAT):c.753-2A>T
NM_020549.5(CHAT):c.84_91del (p.Arg28fs)
NM_020549.5(CHAT):c.921del (p.Cys308fs)

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