ClinVar Miner

List of variants reported as pathogenic for Familial infantile myasthenia by Invitae

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Total variants: 48
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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.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) rs369251527 0.00001
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter) rs1458796820 0.00001
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys) rs201439531 0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NC_000010.10:g.(?_50821083)_(50874150_?)del
NC_000010.10:g.(?_50856533)_(50857702_?)del
NC_000010.11:g.(?_49614170)_(49665066_?)del
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter) rs142889639
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
NM_020549.5(CHAT):c.1620dup (p.Leu541fs) rs2132820703
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) rs753652169
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter) rs777684375
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter) rs1838635016
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter) rs1838635262
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) rs1404321683
NM_020549.5(CHAT):c.619del (p.Arg207fs)
NM_020549.5(CHAT):c.669del (p.Gln223fs) rs1554802808
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
NM_020549.5(CHAT):c.951del (p.Val318fs) rs2132735050
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560

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