ClinVar Miner

List of variants in gene COL11A2 reported as benign for Otospondylomegaepiphyseal dysplasia

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Total variants: 15
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HGVS dbSNP
NM_080679.2(COL11A2):c.-174C>A rs138299820
NM_080679.2(COL11A2):c.1039-7A>C rs3129201
NM_080679.2(COL11A2):c.1815A>T (p.Gly605=) rs1799908
NM_080679.2(COL11A2):c.2307+3G>A rs970901
NM_080679.2(COL11A2):c.2360C>T (p.Pro787Leu) rs2855430
NM_080679.2(COL11A2):c.2379T>C (p.Asp793=) rs2229785
NM_080679.2(COL11A2):c.2829+15A>C rs2855436
NM_080679.2(COL11A2):c.2853G>A (p.Pro951=) rs1799910
NM_080679.2(COL11A2):c.2992-11C>T rs2855437
NM_080679.2(COL11A2):c.3063C>T (p.Pro1021=) rs1799911
NM_080679.2(COL11A2):c.3625C>A (p.Pro1209Thr) rs2229784
NM_080679.2(COL11A2):c.798+1569T>A rs1799907
NM_080679.2(COL11A2):c.798+876G>A rs9277934
NM_080679.2(COL11A2):c.858+10G>A rs2744507
NM_080680.2(COL11A2):c.2484+13delG rs55730247

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