ClinVar Miner

List of variants in gene COL11A2 reported as pathogenic for not provided

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Total variants: 5
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NM_080679.2(COL11A2):c.1760_1764delinsA (p.Gly587fs) rs886044584
NM_080679.2(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080679.2(COL11A2):c.339_340delinsG (p.Leu114fs) rs1554225999
NM_080679.2(COL11A2):c.3556C>T (p.Arg1186Ter) rs746754428
NM_080679.2(COL11A2):c.798+2323dup rs748440351

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