ClinVar Miner

List of variants in gene COL11A1 reported as pathogenic for Fibrochondrogenesis

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Total variants: 4
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NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter) rs1557812993
NM_080629.2(COL11A1):c.1822dup (p.Ala608fs) rs730882190
NM_080629.2(COL11A1):c.2386G>C (p.Gly796Arg) rs387906611
NM_080629.2(COL11A1):c.3277G>C (p.Gly1093Arg) rs397514455

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