ClinVar Miner

List of variants in gene COL11A2 studied for autosomal recessive nonsyndromic hearing loss 53

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
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.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_080680.3(COL11A2):c.798+67C>T rs772701006 0.00001
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr) rs864309523
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) rs1404134749
NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly) rs1769033329
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.