ClinVar Miner

List of variants in gene COL11A1 studied for Stickler Syndrome, Dominant

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Total variants: 118
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HGVS dbSNP
NM_001854.4(COL11A1):c.*105C>T rs1031820
NM_001854.4(COL11A1):c.*1091A>T rs41292523
NM_001854.4(COL11A1):c.*1105C>T rs12073619
NM_001854.4(COL11A1):c.*1183A>G rs9659030
NM_001854.4(COL11A1):c.*1203G>A rs190577885
NM_001854.4(COL11A1):c.*1227T>A rs538679983
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1488G>C rs886044968
NM_001854.4(COL11A1):c.*17A>G rs190728953
NM_001854.4(COL11A1):c.*240A>G rs886044972
NM_001854.4(COL11A1):c.*301A>G rs12731575
NM_001854.4(COL11A1):c.*508G>A rs3088150
NM_001854.4(COL11A1):c.*579A>G rs536837264
NM_001854.4(COL11A1):c.*628dup rs532806397
NM_001854.4(COL11A1):c.*632G>A rs74108029
NM_001854.4(COL11A1):c.*687C>T rs186072680
NM_001854.4(COL11A1):c.*715A>G rs886044971
NM_001854.4(COL11A1):c.*809C>T rs143875783
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-188G>A rs372541219
NM_001854.4(COL11A1):c.-198_-195del rs886044981
NM_001854.4(COL11A1):c.-220T>C rs886044982
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.-258C>A rs886044984
NM_001854.4(COL11A1):c.-50A>G rs369810404
NM_001854.4(COL11A1):c.-75C>T rs886044980
NM_001854.4(COL11A1):c.-78T>A rs12025921
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=) rs563115409
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.4(COL11A1):c.107-12C>T rs200564243
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939
NM_001854.4(COL11A1):c.1320C>T (p.Val440=) rs201585594
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726
NM_001854.4(COL11A1):c.1489-5C>A rs370997745
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006
NM_001854.4(COL11A1):c.1630-13T>C rs370547604
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797
NM_001854.4(COL11A1):c.1899+3A>G rs374676938
NM_001854.4(COL11A1):c.1944+11T>C rs71664954
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795
NM_001854.4(COL11A1):c.1998+4T>A rs12136577
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355
NM_001854.4(COL11A1):c.2043+8G>A rs2622875
NM_001854.4(COL11A1):c.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.4(COL11A1):c.2611-4C>T rs79505593
NM_001854.4(COL11A1):c.2655+3A>G rs886044978
NM_001854.4(COL11A1):c.275-7T>C rs12136865
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220
NM_001854.4(COL11A1):c.3168+15A>G rs1012281
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769
NM_001854.4(COL11A1):c.3277-13A>C rs371455495
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=) rs141432979
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=) rs144729226
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-25_3817-24dup rs34228277
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841
NM_001854.4(COL11A1):c.3979-14A>T rs186245518
NM_001854.4(COL11A1):c.3979-3T>C rs138464908
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4140+13T>A rs374901069
NM_001854.4(COL11A1):c.4140+13del rs781736900
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4303-22dup rs35232764
NM_001854.4(COL11A1):c.4357-23dup rs748850423
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.489-7T>G rs372555374
NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu) rs541676352
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500
NM_001854.4(COL11A1):c.652-18_652-17dup rs36076089
NM_001854.4(COL11A1):c.652-18dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly) rs199539580
NM_001854.4(COL11A1):c.898-15T>C rs200242905
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371

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