ClinVar Miner

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

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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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.*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.4709T>C (p.Leu1570Pro) rs558265763 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.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.*1488G>C rs886044968 0.00003
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.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 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.4175C>T (p.Thr1392Ile) rs780411112 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.5386G>A (p.Gly1796Arg) rs925433052 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.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1351-3T>A rs1296607621
NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly) rs776610122
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.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
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.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.3375C>G (p.Asp1125Glu) rs17127270
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.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.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.781-17T>G rs1553239331
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559

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