ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for Stickler syndrome type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.*508G>A rs3088150 0.00140
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_001854.4(COL11A1):c.489-4T>A rs371357098 0.00032
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.-50A>G rs369810404 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171 0.00023
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797 0.00022
NM_001854.4(COL11A1):c.652-13T>G rs776608546 0.00020
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_001854.4(COL11A1):c.*426A>G rs776415474 0.00016
NM_001854.4(COL11A1):c.*1488G>C rs886044968 0.00014
NM_001854.4(COL11A1):c.*486T>C rs563094116 0.00014
NM_001854.4(COL11A1):c.-220T>C rs886044982 0.00014
NM_001854.4(COL11A1):c.1630-13T>C rs370547604 0.00014
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979 0.00014
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580 0.00014
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500 0.00010
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.*579A>G rs536837264 0.00008
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.*535A>C rs778002512 0.00007
NM_001854.4(COL11A1):c.107-12C>T rs200564243 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.*876G>A rs562885468 0.00006
NM_001854.4(COL11A1):c.1899+3A>G rs374676938 0.00006
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795 0.00006
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018 0.00006
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00004
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.1341A>G (p.Ala447=) rs372963982 0.00003
NM_001854.4(COL11A1):c.2044G>A (p.Gly682Ser) rs369011087 0.00003
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu) rs1319482941 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001854.4(COL11A1):c.*184A>G rs1400606980 0.00002
NM_001854.4(COL11A1):c.1845+11T>G rs201513205 0.00002
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842 0.00002
NM_001854.4(COL11A1):c.*1230G>A rs1343503479 0.00001
NM_001854.4(COL11A1):c.*1301T>C rs1282780058 0.00001
NM_001854.4(COL11A1):c.*240A>G rs886044972 0.00001
NM_001854.4(COL11A1):c.*715A>G rs886044971 0.00001
NM_001854.4(COL11A1):c.-222G>T rs1055842402 0.00001
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278 0.00001
NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu) rs371793829 0.00001
NM_001854.4(COL11A1):c.1999G>A (p.Gly667Ser) rs760878512 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801 0.00001
NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His) rs202194245 0.00001
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala) rs778869762 0.00001
NM_001854.4(COL11A1):c.924A>G (p.Glu308=) rs1010235940 0.00001
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371 0.00001
NM_001854.4(COL11A1):c.*1082G>A rs1649568241
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1535A>C rs1649521098
NM_001854.4(COL11A1):c.*40C>A rs766361433
NM_001854.4(COL11A1):c.*901T>C rs1649591440
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-115C>T rs1674875374
NM_001854.4(COL11A1):c.-248G>A rs1674889828
NM_001854.4(COL11A1):c.-258C>A rs886044984
NM_001854.4(COL11A1):c.-75C>T rs886044980
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1245+6T>A rs2101944852
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.1351-3T>A rs1296607621
NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly) rs776610122
NM_001854.4(COL11A1):c.1630-3T>C
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
NM_001854.4(COL11A1):c.174G>A (p.Thr58=) rs530441485
NM_001854.4(COL11A1):c.1927G>C (p.Gly643Arg)
NM_001854.4(COL11A1):c.2043+1G>A
NM_001854.4(COL11A1):c.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.2394+8T>C rs1322783114
NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser) rs1663713016
NM_001854.4(COL11A1):c.2655+3A>G rs886044978
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.2862+3A>G
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.3233G>C (p.Gly1078Ala)
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3343C>T (p.Pro1115Ser) rs1658594891
NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn) rs1364963653
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln) rs1182148061
NM_001854.4(COL11A1):c.3515C>T (p.Pro1172Leu)
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)
NM_001854.4(COL11A1):c.3816+6T>G rs2101038892
NM_001854.4(COL11A1):c.3978+1G>A rs1570712889
NM_001854.4(COL11A1):c.4140+8A>T
NM_001854.4(COL11A1):c.4230G>A (p.Arg1410=) rs1348561782
NM_001854.4(COL11A1):c.4302+5G>A
NM_001854.4(COL11A1):c.4302G>A (p.Met1434Ile)
NM_001854.4(COL11A1):c.4360C>T (p.His1454Tyr)
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.4(COL11A1):c.5009G>A (p.Ser1670Asn) rs1313374505
NM_001854.4(COL11A1):c.5275-15T>C rs748518624
NM_001854.4(COL11A1):c.5275-9A>C rs200949243
NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu) rs1247463879
NM_001854.4(COL11A1):c.781-17T>G rs1553239331
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559

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.