ClinVar Miner

List of variants in gene COLQ reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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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.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_005677.4(COLQ):c.214A>G (p.Ser72Gly) rs771877645 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005677.4(COLQ):c.283C>T (p.Gln95Ter) rs1302783957
NM_005677.4(COLQ):c.291G>C (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.949C>G (p.Pro317Ala) rs1064797292

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