ClinVar Miner

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

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Gene type:
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Total variants: 150
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HGVS dbSNP
NC_000006.12:g.33163768C>A
NC_000006.12:g.33165754C>T
NC_000006.12:g.33171170G>A
NC_000006.12:g.33174012G>A
NC_000006.12:g.33176295G>A
NC_000006.12:g.33178704C>T
NC_000006.12:g.33189446G>A
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.1061G>A (p.Gly354Asp) rs141140798
NM_080679.2(COL11A2):c.1106C>T (p.Ala369Val) rs373983482
NM_080679.2(COL11A2):c.1168C>T (p.Arg390Cys) rs752552097
NM_080679.2(COL11A2):c.1236+5C>T rs771087374
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.1345-9T>G rs181999673
NM_080679.2(COL11A2):c.1357T>G (p.Phe453Val) rs876657764
NM_080679.2(COL11A2):c.1395T>C (p.His465=) rs533884328
NM_080679.2(COL11A2):c.1453-9C>T rs148243956
NM_080679.2(COL11A2):c.1461C>T (p.Asp487=) rs41266697
NM_080679.2(COL11A2):c.1496C>G (p.Ser499Trp) rs147328015
NM_080679.2(COL11A2):c.1498-10G>A rs3129202
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1551+5G>A rs727504891
NM_080679.2(COL11A2):c.1554C>T (p.Gly518=) rs141815296
NM_080679.2(COL11A2):c.1559G>A (p.Arg520Gln) rs528989984
NM_080679.2(COL11A2):c.1647C>T (p.Thr549=) rs766534015
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.1743A>G (p.Gly581=) rs753871660
NM_080679.2(COL11A2):c.1744C>T (p.Pro582Ser) rs766440021
NM_080679.2(COL11A2):c.1794+7T>C rs186051366
NM_080679.2(COL11A2):c.1815A>T (p.Gly605=) rs1799908
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.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.2110-11G>A rs368695514
NM_080679.2(COL11A2):c.2174G>A (p.Gly725Glu) rs750006299
NM_080679.2(COL11A2):c.2199G>A (p.Arg733=) rs117237998
NM_080679.2(COL11A2):c.2208+13del rs763299239
NM_080679.2(COL11A2):c.2234G>A (p.Arg745Gln) rs147927477
NM_080679.2(COL11A2):c.2263-5del rs555657704
NM_080679.2(COL11A2):c.2307+14G>A rs559123089
NM_080679.2(COL11A2):c.2307+3G>A rs970901
NM_080679.2(COL11A2):c.2308-20dup rs727502942
NM_080679.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080679.2(COL11A2):c.233-8G>T rs375268140
NM_080679.2(COL11A2):c.2360C>T (p.Pro787Leu) rs2855430
NM_080679.2(COL11A2):c.2361G>A (p.Pro787=) rs113067047
NM_080679.2(COL11A2):c.2372G>A (p.Gly791Glu) rs727502941
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.2437C>A (p.Pro813Thr) rs727502940
NM_080679.2(COL11A2):c.2487C>T (p.Thr829=) rs775487504
NM_080679.2(COL11A2):c.2578-9del rs397517477
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.2607G>A (p.Gly869=) rs147004824
NM_080679.2(COL11A2):c.2662A>G (p.Thr888Ala) rs1554217436
NM_080679.2(COL11A2):c.2710C>G (p.Pro904Ala) rs997533180
NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys) rs121912947
NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) rs146093235
NM_080679.2(COL11A2):c.2795G>T (p.Gly932Val) rs1554216943
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.3208-3C>T rs753183777
NM_080679.2(COL11A2):c.3210A>C (p.Gly1070=) rs530771165
NM_080679.2(COL11A2):c.3210A>G (p.Gly1070=) rs530771165
NM_080679.2(COL11A2):c.3235G>A (p.Gly1079Ser) rs876657765
NM_080679.2(COL11A2):c.3255C>T (p.Gly1085=) rs138380958
NM_080679.2(COL11A2):c.3262-3C>T rs727502939
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.329G>A (p.Arg110Gln) rs145960317
NM_080679.2(COL11A2):c.3301C>T (p.Pro1101Ser) rs374515005
NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) rs151098305
NM_080679.2(COL11A2):c.338G>T (p.Gly113Val) rs199946338
NM_080679.2(COL11A2):c.3404C>T (p.Ser1135Leu) rs534570825
NM_080679.2(COL11A2):c.3478-9C>G rs762361602
NM_080679.2(COL11A2):c.3539A>G (p.Asp1180Gly) rs142962835
NM_080679.2(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080679.2(COL11A2):c.3557G>A (p.Arg1186Gln) rs727504832
NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) rs727504460
NM_080679.2(COL11A2):c.3624G>A (p.Gly1208=) rs1321962760
NM_080679.2(COL11A2):c.3625C>A (p.Pro1209Thr) rs2229784
NM_080679.2(COL11A2):c.3694-8T>C rs377001136
NM_080679.2(COL11A2):c.3705C>T (p.Gly1235=) rs778423110
NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) rs142890313
NM_080679.2(COL11A2):c.3720G>A (p.Pro1240=) rs139283268
NM_080679.2(COL11A2):c.3734C>T (p.Pro1245Leu) rs763995767
NM_080679.2(COL11A2):c.3869T>G (p.Leu1290Arg) rs571981688
NM_080679.2(COL11A2):c.3885C>T (p.Gly1295=) rs201642192
NM_080679.2(COL11A2):c.388C>T (p.Arg130Trp) rs144363465
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.3970C>T (p.Arg1324Trp) rs369126897
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.4174G>A (p.Glu1392Lys) rs727504543
NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) rs114580597
NM_080679.2(COL11A2):c.4238G>A (p.Arg1413His) rs772567850
NM_080679.2(COL11A2):c.4269C>T (p.Thr1423=) rs375329541
NM_080679.2(COL11A2):c.4289C>T (p.Pro1430Leu) rs1554212071
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.4384C>T (p.Arg1462Cys) rs727504458
NM_080679.2(COL11A2):c.4430-9A>G rs555680585
NM_080679.2(COL11A2):c.4465C>T (p.Arg1489Trp) rs778962979
NM_080679.2(COL11A2):c.4478G>A (p.Arg1493Gln) rs1799912
NM_080679.2(COL11A2):c.4542+7G>A rs200947059
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.4603C>G (p.Leu1535Val) rs770715075
NM_080679.2(COL11A2):c.4622A>T (p.His1541Leu) rs1487325262
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080679.2(COL11A2):c.4750-5T>G rs368309085
NM_080679.2(COL11A2):c.4763G>A (p.Arg1588Gln) rs781633250
NM_080679.2(COL11A2):c.4767G>A (p.Thr1589=) rs142893093
NM_080679.2(COL11A2):c.4785G>A (p.Thr1595=) rs752823488
NM_080679.2(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080679.2(COL11A2):c.4829A>T (p.Asp1610Val) rs1554210895
NM_080679.2(COL11A2):c.4839C>G (p.Ala1613=) rs139647701
NM_080679.2(COL11A2):c.4844C>T (p.Pro1615Leu) rs2229792
NM_080679.2(COL11A2):c.4845G>A (p.Pro1615=) rs768399249
NM_080679.2(COL11A2):c.517C>T (p.Arg173Trp) rs146522169
NM_080679.2(COL11A2):c.544G>A (p.Val182Ile) rs375937729
NM_080679.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080679.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080679.2(COL11A2):c.798+1569T>A rs1799907
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.798+2329C>A rs147527758
NM_080679.2(COL11A2):c.798+2368T>A rs1288780147
NM_080679.2(COL11A2):c.798+2461G>A rs73741539
NM_080679.2(COL11A2):c.798+2483G>C rs367706373
NM_080679.2(COL11A2):c.798+38C>A rs200989046
NM_080679.2(COL11A2):c.798+836C>T rs876657443
NM_080679.2(COL11A2):c.798+845C>A rs111227109
NM_080679.2(COL11A2):c.798+858_798+863delinsATTGGGCTCG rs1554224412
NM_080679.2(COL11A2):c.798+876G>A rs9277934
NM_080679.2(COL11A2):c.798+904C>T rs747064765
NM_080679.2(COL11A2):c.815G>A (p.Arg272Gln) rs150429851
NM_080679.2(COL11A2):c.858+10G>A rs2744507
NM_080679.2(COL11A2):c.858+8A>T rs773318336
NM_080679.2(COL11A2):c.867C>T (p.Leu289=) rs532305958
NM_080679.2(COL11A2):c.966C>T (p.Gly322=) rs549704545

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