ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 5 by Revvity Omics, Revvity

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser) rs777215134 0.00038
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys) rs138818971 0.00015
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_005677.4(COLQ):c.61G>A (p.Val21Met) rs142115188 0.00008
NM_005677.4(COLQ):c.1019G>A (p.Arg340His) rs375225755 0.00006
NM_005677.4(COLQ):c.1355G>A (p.Arg452His) rs754915644 0.00006
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln) rs778740405 0.00006
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu) rs372064982 0.00004
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys) rs141721093 0.00004
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln) rs775959815 0.00004
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu) rs200479277 0.00004
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn) rs749266800 0.00002
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp) rs765680430 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1255G>A (p.Gly419Ser)
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.241_242dup (p.Asn81fs)
NM_005677.4(COLQ):c.329C>T (p.Pro110Leu)
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys) rs750806839
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe) rs1310878358
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.683G>T (p.Gly228Val)
NM_005677.4(COLQ):c.717+4A>C rs201550931
NM_005677.4(COLQ):c.779C>G (p.Pro260Arg)
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser) rs2063138065
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.79A>G (p.Ile27Val)
NM_005677.4(COLQ):c.869G>A (p.Arg290Lys)
NM_005677.4(COLQ):c.955-2A>T rs1172409117

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