ClinVar Miner

List of variants in gene COL11A2 reported as benign for Deafness, autosomal recessive 53

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_080680.3(COL11A2):c.1360-7A>C rs3129201
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2484+22C>G rs2744512
NM_080680.3(COL11A2):c.2628+3G>A rs970901
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785
NM_080680.3(COL11A2):c.3150+15A>C rs2855436
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910
NM_080680.3(COL11A2):c.3313-11C>T rs2855437
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911
NM_080680.3(COL11A2):c.3853-39G>A rs2855448
NM_080680.3(COL11A2):c.4339-49G>T rs2855453
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.877-34C>T rs116165521
NM_080680.3(COL11A2):c.877-4T>A rs1799907

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