ClinVar Miner

List of variants in gene COL11A1 studied for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP
COL11A1, 54-BP EX DEL, AS, AG-TG
NM_001854.4(COL11A1):c.*105C>T rs1031820
NM_001854.4(COL11A1):c.*1082G>A
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.*1230G>A
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1301T>C
NM_001854.4(COL11A1):c.*1322G>A
NM_001854.4(COL11A1):c.*1488G>C rs886044968
NM_001854.4(COL11A1):c.*1535A>C
NM_001854.4(COL11A1):c.*17A>G rs190728953
NM_001854.4(COL11A1):c.*184A>G
NM_001854.4(COL11A1):c.*240A>G rs886044972
NM_001854.4(COL11A1):c.*301A>G rs12731575
NM_001854.4(COL11A1):c.*40C>A
NM_001854.4(COL11A1):c.*426A>G
NM_001854.4(COL11A1):c.*486T>C
NM_001854.4(COL11A1):c.*508G>A rs3088150
NM_001854.4(COL11A1):c.*535A>C
NM_001854.4(COL11A1):c.*579A>G rs536837264
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.*876G>A
NM_001854.4(COL11A1):c.*901T>C
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-115C>T
NM_001854.4(COL11A1):c.-188G>A rs372541219
NM_001854.4(COL11A1):c.-220T>C rs886044982
NM_001854.4(COL11A1):c.-222G>T
NM_001854.4(COL11A1):c.-248G>A
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.1168G>T (p.Glu390Ter)
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala) rs538837278
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
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.1341A>G (p.Ala447=)
NM_001854.4(COL11A1):c.1351-3T>A
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
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.1630-2del rs1057517989
NM_001854.4(COL11A1):c.174G>A (p.Thr58=)
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
NM_001854.4(COL11A1):c.1845+11T>G
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797
NM_001854.4(COL11A1):c.1899+3A>G rs374676938
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188
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.2044G>A (p.Gly682Ser)
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.2394+8T>C
NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser)
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)
NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu)
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.2735C>T (p.Pro912Leu)
NM_001854.4(COL11A1):c.275-7T>C rs12136865
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001854.4(COL11A1):c.3024+13T>C rs201141572
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.3343C>T (p.Pro1115Ser)
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.3384+13T>G
NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn)
NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln) rs1182148061
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
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.3873A>C (p.Gly1291=) rs149367044
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) rs769308801
NM_001854.4(COL11A1):c.3925-11C>T rs192518657
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.4087-4A>G rs137999403
NM_001854.4(COL11A1):c.4140+10A>T rs187171126
NM_001854.4(COL11A1):c.4140+13T>A rs374901069
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.4230G>A (p.Arg1410=)
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
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.456C>T (p.Pro152=) rs751512442
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.478G>A (p.Ala160Thr)
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.489-4T>A rs371357098
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.5009G>A (p.Ser1670Asn)
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.4(COL11A1):c.5275-15T>C
NM_001854.4(COL11A1):c.5275-9A>C
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) rs532113782
NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu)
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500
NM_001854.4(COL11A1):c.652-13T>G
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.781-17T>G rs1553239331
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.871A>G (p.Thr291Ala)
NM_001854.4(COL11A1):c.898-15T>C rs200242905
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519
NM_001854.4(COL11A1):c.924A>G (p.Glu308=) rs1010235940
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583

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