ClinVar Miner

List of variants studied for congenital myasthenic syndrome 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.*344C>T rs2278961 0.46594
NM_005677.4(COLQ):c.*365A>T rs2278962 0.44285
NM_005677.4(COLQ):c.*1001G>A rs3846128 0.37381
NM_005677.4(COLQ):c.-46G>A rs73033051 0.09699
NM_005677.4(COLQ):c.*515C>T rs10154896 0.06822
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_005677.4(COLQ):c.556-15A>G rs57376327 0.02543
NM_005677.4(COLQ):c.1248C>T (p.Asp416=) rs55866379 0.02373
NM_005677.4(COLQ):c.*492G>A rs116231717 0.00917
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_005677.4(COLQ):c.393+11C>T rs909353 0.00630
NM_005677.4(COLQ):c.*994G>A rs77521642 0.00563
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser) rs189427175 0.00131
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_005677.4(COLQ):c.*421G>A rs533015053 0.00044
NM_005677.4(COLQ):c.*1248C>T rs373209743 0.00041
NM_005677.4(COLQ):c.*516G>A rs544927968 0.00038
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.*407C>T rs569980572 0.00027
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_005677.4(COLQ):c.*169T>A rs550256310 0.00022
NM_005677.4(COLQ):c.*189C>T rs749985637 0.00022
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_005677.4(COLQ):c.*1292T>G rs886058093 0.00013
NM_005677.4(COLQ):c.*715G>A rs922188126 0.00013
NM_005677.4(COLQ):c.*1408C>T rs989975589 0.00011
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_005677.4(COLQ):c.814+11C>T rs575840341 0.00009
NM_005677.4(COLQ):c.367-3T>C rs368112392 0.00008
NM_005677.4(COLQ):c.*1277C>T rs572408115 0.00006
NM_005677.4(COLQ):c.1355G>A (p.Arg452His) rs754915644 0.00006
NM_005677.4(COLQ):c.785G>A (p.Arg262His) rs201158622 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005677.4(COLQ):c.967A>T (p.Asn323Tyr) rs369551954 0.00006
NM_005677.4(COLQ):c.*257G>A rs886058097 0.00004
NM_005677.4(COLQ):c.*276A>G rs766923758 0.00004
NM_005677.4(COLQ):c.*85G>A rs768534998 0.00004
NM_005677.4(COLQ):c.*993C>T rs886058095 0.00004
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu) rs374642884 0.00004
NM_005677.4(COLQ):c.*1490A>C rs751038602 0.00003
NM_005677.4(COLQ):c.*426G>A rs763440701 0.00002
NM_005677.4(COLQ):c.*736A>G rs1419160013 0.00002
NM_005677.4(COLQ):c.*751C>T rs368981773 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.*1280C>T rs146270961 0.00001
NM_005677.4(COLQ):c.*446A>C rs1308248041 0.00001
NM_005677.4(COLQ):c.*848C>T rs550045499 0.00001
NM_005677.4(COLQ):c.19A>G (p.Met7Val) rs774887446 0.00001
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu) rs531584926 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_005677.4(COLQ):c.*1084G>A rs376202299
NM_005677.4(COLQ):c.*1395C>T rs3274
NM_005677.4(COLQ):c.*425C>T rs886058096
NM_005677.4(COLQ):c.*4C>T rs754063500
NM_005677.4(COLQ):c.*76C>A rs886058098
NM_005677.4(COLQ):c.*999G>A rs886058094
NM_005677.4(COLQ):c.-58A>G rs2063140701
NM_005677.4(COLQ):c.117C>T (p.Ser39=) rs138891500
NM_005677.4(COLQ):c.1338C>A (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg) rs188841362
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys) rs750806839
NM_005677.4(COLQ):c.607C>T (p.Pro203Ser) rs2062334452
NM_005677.4(COLQ):c.718-9C>T rs756975517

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