ClinVar Miner

List of variants in gene COL11A2 reported as likely benign for Stickler Syndrome, Dominant

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Total variants: 60
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HGVS dbSNP
NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080679.2(COL11A2):c.*119G>A rs183458493
NM_080679.2(COL11A2):c.*128C>G rs528560777
NM_080679.2(COL11A2):c.*4C>T rs186720023
NM_080679.2(COL11A2):c.*706G>T rs548143581
NM_080679.2(COL11A2):c.*822C>G rs536130072
NM_080679.2(COL11A2):c.*925G>A rs117470046
NM_080679.2(COL11A2):c.-200G>A rs144092339
NM_080679.2(COL11A2):c.1060G>T (p.Gly354Cys) rs764998691
NM_080679.2(COL11A2):c.1291-10G>C rs182657680
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.1345-11CCT[2] rs147815324
NM_080679.2(COL11A2):c.1453-9C>T rs148243956
NM_080679.2(COL11A2):c.1461C>T (p.Asp487=) rs41266697
NM_080679.2(COL11A2):c.1497+15G>A rs549588854
NM_080679.2(COL11A2):c.1552-14A>G rs149099562
NM_080679.2(COL11A2):c.1861A>T (p.Ile621Phe) rs188490457
NM_080679.2(COL11A2):c.1865G>A (p.Arg622Gln) rs61730262
NM_080679.2(COL11A2):c.1894-11A>G rs557236389
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.2199G>A (p.Arg733=) rs117237998
NM_080679.2(COL11A2):c.2263-5del rs555657704
NM_080679.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080679.2(COL11A2):c.2363G>C (p.Gly788Ala) rs555936455
NM_080679.2(COL11A2):c.2414T>C (p.Val805Ala) rs548592690
NM_080679.2(COL11A2):c.2436C>T (p.Gly812=) rs34478777
NM_080679.2(COL11A2):c.2771C>T (p.Pro924Leu) rs528009333
NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.3007C>T (p.Pro1003Ser) rs141164483
NM_080679.2(COL11A2):c.3255C>T (p.Gly1085=) rs138380958
NM_080679.2(COL11A2):c.3262-5T>C rs183536190
NM_080679.2(COL11A2):c.3294C>A (p.Asn1098Lys) rs141967872
NM_080679.2(COL11A2):c.3295C>T (p.Leu1099=) rs147576338
NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) rs151098305
NM_080679.2(COL11A2):c.3404C>T (p.Ser1135Leu) rs534570825
NM_080679.2(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) rs139283268
NM_080679.2(COL11A2):c.3759G>A (p.Gly1253=) rs537455619
NM_080679.2(COL11A2):c.3944C>T (p.Pro1315Leu) rs555936333
NM_080679.2(COL11A2):c.4062C>T (p.Pro1354=) rs148262058
NM_080679.2(COL11A2):c.4071+12C>T rs117267045
NM_080679.2(COL11A2):c.4137T>A (p.Gly1379=) rs143186319
NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) rs114580597
NM_080679.2(COL11A2):c.4265C>T (p.Pro1422Leu) rs201315111
NM_080679.2(COL11A2):c.4330C>T (p.Arg1444Trp) rs141254777
NM_080679.2(COL11A2):c.4331G>A (p.Arg1444Gln) rs145343609
NM_080679.2(COL11A2):c.4362A>G (p.Thr1454=) rs34055850
NM_080679.2(COL11A2):c.4430-9A>G rs555680585
NM_080679.2(COL11A2):c.4478G>A (p.Arg1493Gln) rs1799912
NM_080679.2(COL11A2):c.4551C>T (p.Tyr1517=) rs372250466
NM_080679.2(COL11A2):c.4563G>C (p.Glu1521Asp) rs2229790
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.4750-5T>G rs368309085
NM_080679.2(COL11A2):c.4844C>T (p.Pro1615Leu) rs2229792
NM_080679.2(COL11A2):c.5A>G (p.Glu2Gly) rs568840295
NM_080679.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080679.2(COL11A2):c.798+2461G>A rs73741539
NM_080679.2(COL11A2):c.887C>T (p.Pro296Leu) rs201179101
NM_080679.2(COL11A2):c.966C>T (p.Gly322=) rs549704545
NM_080680.2(COL11A2):c.-241G>A rs533843327

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