ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_005677.4(COLQ):c.1161C>T (p.Asp387=) rs539100854 0.00021
NM_005677.4(COLQ):c.321+17G>A rs769285800 0.00016
NM_005677.4(COLQ):c.107-9263G>C rs905126365 0.00011
NM_005677.4(COLQ):c.621A>C (p.Gly207=) rs138830715 0.00011
NM_005677.4(COLQ):c.246C>T (p.Leu82=) rs372432709 0.00009
NM_005677.4(COLQ):c.654A>G (p.Lys218=) rs112673051 0.00009
NM_005677.4(COLQ):c.367-20C>T rs371561543 0.00008
NM_005677.4(COLQ):c.159G>A (p.Leu53=) rs745419074 0.00007
NM_005677.4(COLQ):c.366+9C>T rs778157663 0.00007
NM_005677.4(COLQ):c.393+12G>A rs372145044 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005677.4(COLQ):c.1164C>T (p.Asp388=) rs149852377 0.00004
NM_005677.4(COLQ):c.1196-15_1196-13del rs758190106 0.00004
NM_005677.4(COLQ):c.250C>T (p.Leu84=) rs369308750 0.00004
NM_005677.4(COLQ):c.522C>T (p.Gly174=) rs113843907 0.00004
NM_005677.4(COLQ):c.600+15C>T rs759209415 0.00004
NM_005677.4(COLQ):c.858G>T (p.Gly286=) rs756396914 0.00004
NM_005677.4(COLQ):c.1224T>C (p.Gly408=) rs1297066860 0.00003
NM_005677.4(COLQ):c.1299-20C>T rs375712012 0.00003
NM_005677.4(COLQ):c.393+18C>T rs769699068 0.00003
NM_005677.4(COLQ):c.815-5C>T rs771406985 0.00003
NM_005677.4(COLQ):c.1254C>T (p.Asp418=) rs777147864 0.00002
NM_005677.4(COLQ):c.1299-15C>A rs994643666 0.00002
NM_005677.4(COLQ):c.556-7T>C rs780166352 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.999C>A (p.Thr333=) rs774279832 0.00002
NM_005677.4(COLQ):c.1116C>T (p.His372=) rs759169923 0.00001
NM_005677.4(COLQ):c.1185C>T (p.Asp395=) rs548322139 0.00001
NM_005677.4(COLQ):c.1196-16C>T rs1360920116 0.00001
NM_005677.4(COLQ):c.1299-5C>T rs1036242028 0.00001
NM_005677.4(COLQ):c.1350C>T (p.Pro450=) rs747648795 0.00001
NM_005677.4(COLQ):c.165G>A (p.Thr55=) rs777613214 0.00001
NM_005677.4(COLQ):c.180A>G (p.Pro60=) rs750564606 0.00001
NM_005677.4(COLQ):c.276G>A (p.Pro92=) rs753997328 0.00001
NM_005677.4(COLQ):c.321+16C>T rs772748231 0.00001
NM_005677.4(COLQ):c.357G>A (p.Lys119=) rs771988325 0.00001
NM_005677.4(COLQ):c.402T>C (p.Pro134=) rs766356664 0.00001
NM_005677.4(COLQ):c.432G>A (p.Gly144=) rs993225440 0.00001
NM_005677.4(COLQ):c.450C>T (p.Gly150=) rs771279997 0.00001
NM_005677.4(COLQ):c.60C>T (p.Ile20=) rs773097270 0.00001
NM_005677.4(COLQ):c.718-11C>A rs779127197 0.00001
NM_005677.4(COLQ):c.718-5G>A rs748890722 0.00001
NM_005677.4(COLQ):c.729G>A (p.Gly243=) rs941592757 0.00001
NM_005677.4(COLQ):c.810T>G (p.Pro270=) rs1379560902 0.00001
NM_005677.4(COLQ):c.955-6T>C rs372534357 0.00001
NM_005677.4(COLQ):c.1005C>T (p.Asn335=)
NM_005677.4(COLQ):c.106+11G>A
NM_005677.4(COLQ):c.106+11G>T
NM_005677.4(COLQ):c.106+18C>G
NM_005677.4(COLQ):c.106+7G>T rs766993036
NM_005677.4(COLQ):c.107-20C>G
NM_005677.4(COLQ):c.1089C>T (p.Tyr363=) rs752967536
NM_005677.4(COLQ):c.1152G>A (p.Glu384=)
NM_005677.4(COLQ):c.1195+17C>A
NM_005677.4(COLQ):c.1195+17C>T
NM_005677.4(COLQ):c.1196-17T>A
NM_005677.4(COLQ):c.1196-19C>A
NM_005677.4(COLQ):c.1200T>C (p.Cys400=)
NM_005677.4(COLQ):c.1209C>G (p.Ala403=)
NM_005677.4(COLQ):c.1209C>T (p.Ala403=)
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
NM_005677.4(COLQ):c.1221T>C (p.Asp407=)
NM_005677.4(COLQ):c.1257C>T (p.Gly419=) rs1188131165
NM_005677.4(COLQ):c.1298+19C>G rs1165126069
NM_005677.4(COLQ):c.1298+7A>T
NM_005677.4(COLQ):c.1299-8T>G
NM_005677.4(COLQ):c.1299-9C>T rs1372494255
NM_005677.4(COLQ):c.1299G>A (p.Gly433=) rs754755194
NM_005677.4(COLQ):c.1323C>G (p.Thr441=)
NM_005677.4(COLQ):c.1338C>T (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.1347G>A (p.Thr449=)
NM_005677.4(COLQ):c.135T>C (p.Arg45=) rs551550075
NM_005677.4(COLQ):c.141C>T (p.Gly47=)
NM_005677.4(COLQ):c.156C>T (p.Cys52=)
NM_005677.4(COLQ):c.165G>C (p.Thr55=)
NM_005677.4(COLQ):c.165G>T (p.Thr55=)
NM_005677.4(COLQ):c.168T>G (p.Pro56=) rs1575483827
NM_005677.4(COLQ):c.219+11T>C rs2125138945
NM_005677.4(COLQ):c.220-13C>T
NM_005677.4(COLQ):c.220-19G>A
NM_005677.4(COLQ):c.25T>C (p.Leu9=)
NM_005677.4(COLQ):c.291G>T (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.292C>T (p.Leu98=)
NM_005677.4(COLQ):c.321+18G>C rs944034091
NM_005677.4(COLQ):c.321+7G>T
NM_005677.4(COLQ):c.322-15A>G
NM_005677.4(COLQ):c.322-19T>C
NM_005677.4(COLQ):c.342C>A (p.Gly114=)
NM_005677.4(COLQ):c.366+15T>C
NM_005677.4(COLQ):c.367-6C>T
NM_005677.4(COLQ):c.394-19T>C
NM_005677.4(COLQ):c.405C>A (p.Gly135=) rs762810817
NM_005677.4(COLQ):c.408C>T (p.Pro136=)
NM_005677.4(COLQ):c.462C>T (p.Pro154=) rs2062392219
NM_005677.4(COLQ):c.465+7G>T
NM_005677.4(COLQ):c.466-14T>C
NM_005677.4(COLQ):c.466-20TCT[2] rs1368152894
NM_005677.4(COLQ):c.466-4A>G
NM_005677.4(COLQ):c.466-5C>T
NM_005677.4(COLQ):c.528+15C>G
NM_005677.4(COLQ):c.528+17A>G
NM_005677.4(COLQ):c.528+18A>G
NM_005677.4(COLQ):c.529-17C>T
NM_005677.4(COLQ):c.529-18C>A
NM_005677.4(COLQ):c.529-18C>T
NM_005677.4(COLQ):c.529-4T>G
NM_005677.4(COLQ):c.54C>T (p.Leu18=)
NM_005677.4(COLQ):c.555+16G>C
NM_005677.4(COLQ):c.555+7G>A rs2125116104
NM_005677.4(COLQ):c.556-15A>T
NM_005677.4(COLQ):c.558A>G (p.Gly186=) rs2125115076
NM_005677.4(COLQ):c.600+18T>C rs2125114984
NM_005677.4(COLQ):c.601-12C>T
NM_005677.4(COLQ):c.601-16G>A rs762479425
NM_005677.4(COLQ):c.601-18T>C
NM_005677.4(COLQ):c.636+8A>G
NM_005677.4(COLQ):c.636+9C>A
NM_005677.4(COLQ):c.637-11C>T
NM_005677.4(COLQ):c.637-19T>A
NM_005677.4(COLQ):c.702A>C (p.Gly234=) rs2125109713
NM_005677.4(COLQ):c.717+16C>A
NM_005677.4(COLQ):c.717+9C>T
NM_005677.4(COLQ):c.718-14T>C
NM_005677.4(COLQ):c.718-17G>A
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005677.4(COLQ):c.729G>C (p.Gly243=)
NM_005677.4(COLQ):c.72G>T (p.Pro24=)
NM_005677.4(COLQ):c.759G>A (p.Lys253=)
NM_005677.4(COLQ):c.768T>C (p.Pro256=)
NM_005677.4(COLQ):c.783C>A (p.Gly261=)
NM_005677.4(COLQ):c.783C>G (p.Gly261=) rs745798750
NM_005677.4(COLQ):c.792G>T (p.Gly264=) rs1302815595
NM_005677.4(COLQ):c.798A>T (p.Pro266=)
NM_005677.4(COLQ):c.804C>T (p.Pro268=)
NM_005677.4(COLQ):c.814+12A>G
NM_005677.4(COLQ):c.814+12dup
NM_005677.4(COLQ):c.814+13C>T
NM_005677.4(COLQ):c.815-1064del
NM_005677.4(COLQ):c.855C>A (p.Pro285=)
NM_005677.4(COLQ):c.855C>T (p.Pro285=) rs758307097
NM_005677.4(COLQ):c.87C>T (p.Ser29=)
NM_005677.4(COLQ):c.924G>A (p.Val308=)
NM_005677.4(COLQ):c.955-7C>G rs762298520
NM_005677.4(COLQ):c.955-9C>T

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