ClinVar Miner

List of variants reported as likely pathogenic for Congenital myasthenic syndrome 5

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Total variants: 57
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HGVS dbSNP gnomAD frequency
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.555+1G>A rs769276577 0.00002
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.220-1G>A rs199470447 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
GRCh37/hg19 3p25.1(chr3:15529661-15531195)x0
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu) rs758554049
NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)
NM_005677.4(COLQ):c.106+2_106+10del
NM_005677.4(COLQ):c.107-1G>A rs1269227357
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1196-2A>G
NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala) rs1306593300
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.124C>T (p.Gln42Ter)
NM_005677.4(COLQ):c.1250G>A (p.Cys417Tyr)
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu) rs1575460231
NM_005677.4(COLQ):c.1331G>A (p.Cys444Tyr)
NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
NM_005677.4(COLQ):c.188del (p.Pro63fs)
NM_005677.4(COLQ):c.19del (p.Pro6_Met7insTer)
NM_005677.4(COLQ):c.201del (p.Phe67fs)
NM_005677.4(COLQ):c.247_266del (p.Met83fs)
NM_005677.4(COLQ):c.268C>T (p.Gln90Ter)
NM_005677.4(COLQ):c.319C>T (p.Gln107Ter)
NM_005677.4(COLQ):c.319dup (p.Gln107fs)
NM_005677.4(COLQ):c.322-1G>C
NM_005677.4(COLQ):c.366+1G>C rs2125123160
NM_005677.4(COLQ):c.366+1G>T
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.40C>T (p.Gln14Ter)
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005677.4(COLQ):c.466-1G>A
NM_005677.4(COLQ):c.528+1G>A
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.556G>T (p.Gly186Ter)
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.589A>T (p.Lys197Ter)
NM_005677.4(COLQ):c.718-1276C>T rs2062220124
NM_005677.4(COLQ):c.718-1G>A
NM_005677.4(COLQ):c.718-1G>T
NM_005677.4(COLQ):c.738del (p.Val247fs)
NM_005677.4(COLQ):c.814+1G>A
NM_005677.4(COLQ):c.814+2T>C rs1002244829
NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)
NM_005677.4(COLQ):c.955-1G>C
NM_005677.4(COLQ):c.955-2A>C
NM_005677.4(COLQ):c.955-2A>T rs1172409117
NM_005677.4(COLQ):c.95del (p.Pro32fs)
NM_005677.4(COLQ):c.992_998del (p.Leu331fs)

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