ClinVar Miner

List of variants in gene COL11A2 studied for Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2

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Total variants: 5
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HGVS dbSNP
NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro) rs138045609
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.798+1585G>A rs139116571

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