ClinVar Miner

List of variants in gene COLQ studied for Congenital Myasthenic Syndrome, Recessive

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005677.3(COLQ):c.-136G>C rs9836565 0.20379
NM_005677.3(COLQ):c.-96C>T rs151131743 0.00238
NM_005677.3(COLQ):c.-121G>A rs113510832 0.00076
NM_005677.3(COLQ):c.-122C>T rs886058114 0.00001
NM_005677.3(COLQ):c.-120_-119CA[9] rs746566925
NM_005677.3(COLQ):c.-121_-120insCGCA rs886058112
NM_005677.3(COLQ):c.-121delGinsACACACGCA rs886058113
NM_005677.3(COLQ):c.-122_-121delCG rs530131087
NM_005677.3(COLQ):c.-122_-121dup rs530131087
NM_005677.3(COLQ):c.-124_-121delCACG rs886058111
NM_005677.3(COLQ):c.-136_-135delGA rs201205850

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