ClinVar Miner

List of variants in gene COLQ reported by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.1089C>A (p.Tyr363Ter) rs752967536
NM_005677.4(COLQ):c.1257del (p.Ser420fs) rs2125081666
NM_005677.4(COLQ):c.211C>T (p.Arg71Ter) rs1203598816
NM_005677.4(COLQ):c.279C>A (p.Cys93Ter) rs1575482936
NM_005677.4(COLQ):c.909del (p.Tyr304fs) rs2125089059

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