ClinVar Miner

List of variants studied for Deafness, autosomal recessive 53

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Total variants: 21
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HGVS dbSNP
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.3(COL11A2):c.1360-7A>C rs3129201
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
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.2662C>A (p.Pro888Thr) rs864309523
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
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.3385G>A (p.Gly1129Arg) rs550153707
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
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400

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