ClinVar Miner

List of variants reported as benign for Otospondylomegaepiphyseal dysplasia, autosomal recessive

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784 0.04406
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_080680.3(COL11A2):c.-174C>A rs138299820 0.02580
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934

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