ClinVar Miner

List of variants in gene COLQ reported as pathogenic for Congenital myasthenic syndrome 5

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_005677.4(COLQ):c.1005_1008del (p.Asn335fs) rs1311078034 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075 0.00002
NM_005677.4(COLQ):c.555+1G>A rs769276577 0.00002
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005677.4(COLQ):c.1196G>A (p.Arg399His) rs375272767 0.00001
NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln) rs1025361623 0.00001
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005677.4(COLQ):c.220-1G>A rs199470447 0.00001
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter) rs104893733 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
NC_000003.11:g.(?_15497386)_(15498106_?)del
NM_005677.4(COLQ):c.1026C>G (p.Asp342Glu) rs758554049
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter) rs2125086401
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.109del (p.Leu37fs)
NM_005677.4(COLQ):c.109dup (p.Leu37fs)
NM_005677.4(COLQ):c.1111C>T (p.Gln371Ter) rs2125085542
NM_005677.4(COLQ):c.1129del (p.Asp377fs) rs1559511788
NM_005677.4(COLQ):c.118del (p.Leu40fs)
NM_005677.4(COLQ):c.1195+2T>C rs2125085333
NM_005677.4(COLQ):c.1195+2T>G rs2125085333
NM_005677.4(COLQ):c.1212del (p.Cys405fs) rs771866680
NM_005677.4(COLQ):c.1225dup (p.His409fs) rs1559510978
NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile) rs536042715
NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter) rs185829251
NM_005677.4(COLQ):c.1298+3A>G rs1384843815
NM_005677.4(COLQ):c.1307_1314del (p.Gly436fs)
NM_005677.4(COLQ):c.157dup (p.Leu53fs) rs971863968
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
NM_005677.4(COLQ):c.241_242dup (p.Asn81fs)
NM_005677.4(COLQ):c.361G>T (p.Glu121Ter) rs2125123167
NM_005677.4(COLQ):c.377del (p.Gly126fs) rs759874172
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.393+1G>A rs1085307792
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter) rs1369980189
NM_005677.4(COLQ):c.506C>G (p.Ser169Ter) rs104893734
NM_005677.4(COLQ):c.54_57del (p.Ile20fs) rs771879602
NM_005677.4(COLQ):c.57dup (p.Ile20fs) rs777102590
NM_005677.4(COLQ):c.588del (p.Gly198fs) rs1559519107
NM_005677.4(COLQ):c.631C>T (p.Gln211Ter)
NM_005677.4(COLQ):c.682G>T (p.Gly228Ter)
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter) rs2062264317
NM_005677.4(COLQ):c.706C>T (p.Arg236Ter)
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter) rs104893735
NM_005677.4(COLQ):c.769dup (p.Ser257fs) rs2062200939
NM_005677.4(COLQ):c.788dup (p.Pro265fs) rs759911990
NM_005677.4(COLQ):c.798del (p.Gly267fs) rs2125103406
NM_005677.4(COLQ):c.824del (p.Ile275fs)
NM_005677.4(COLQ):c.844A>T (p.Arg282Ter) rs121908922
NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)
NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)
NM_005677.4(COLQ):c.893del (p.Asn298fs) rs2125089093
NM_005677.4(COLQ):c.955-2A>C
NM_005677.4(COLQ):c.955-2A>T rs1172409117
NM_005677.4:c.(814+1_815-1)_(954+1_955-1)del
NM_005677.4:c.107_321del

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