ClinVar Miner

List of variants in gene COL11A2 reported as benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080679.2(COL11A2):c.*4C>T rs186720023
NM_080679.2(COL11A2):c.1039-7A>C rs3129201
NM_080679.2(COL11A2):c.1345-11CCT[2] rs147815324
NM_080679.2(COL11A2):c.1345-9T>G rs181999673
NM_080679.2(COL11A2):c.1461C>T (p.Asp487=) rs41266697
NM_080679.2(COL11A2):c.1498-10G>A rs3129202
NM_080679.2(COL11A2):c.1554C>T (p.Gly518=) rs141815296
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.1815A>T (p.Gly605=) rs1799908
NM_080679.2(COL11A2):c.1865G>A (p.Arg622Gln) rs61730262
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.2307+3G>A rs970901
NM_080679.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080679.2(COL11A2):c.2360C>T (p.Pro787Leu) rs2855430
NM_080679.2(COL11A2):c.2379T>C (p.Asp793=) rs2229785
NM_080679.2(COL11A2):c.2436C>T (p.Gly812=) rs34478777
NM_080679.2(COL11A2):c.2578-9del rs397517477
NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.2829+15A>C rs2855436
NM_080679.2(COL11A2):c.2853G>A (p.Pro951=) rs1799910
NM_080679.2(COL11A2):c.2992-11C>T rs2855437
NM_080679.2(COL11A2):c.3063C>T (p.Pro1021=) rs1799911
NM_080679.2(COL11A2):c.3262-5T>C rs183536190
NM_080679.2(COL11A2):c.3294C>A (p.Asn1098Lys) rs141967872
NM_080679.2(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) rs151098305
NM_080679.2(COL11A2):c.3539A>G (p.Asp1180Gly) rs142962835
NM_080679.2(COL11A2):c.3625C>A (p.Pro1209Thr) rs2229784
NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) rs139283268
NM_080679.2(COL11A2):c.390G>C (p.Arg130=) rs149638770
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.4478G>A (p.Arg1493Gln) rs1799912
NM_080679.2(COL11A2):c.4542+7G>A rs200947059
NM_080679.2(COL11A2):c.4563G>C (p.Glu1521Asp) rs2229790
NM_080679.2(COL11A2):c.4750-5T>G rs368309085
NM_080679.2(COL11A2):c.4844C>T (p.Pro1615Leu) rs2229792
NM_080679.2(COL11A2):c.798+1569T>A rs1799907
NM_080679.2(COL11A2):c.798+2461G>A rs73741539
NM_080679.2(COL11A2):c.798+38C>A rs200989046
NM_080679.2(COL11A2):c.798+876G>A rs9277934
NM_080679.2(COL11A2):c.858+10G>A rs2744507

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