ClinVar Miner

List of variants in gene COL11A2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NC_000006.12:g.33170693del rs145273015
NC_000006.12:g.33192648G>T rs9277935
NM_080680.3(COL11A2):c.-174C>A rs138299820
NM_080680.3(COL11A2):c.-200G>A rs144092339
NM_080680.3(COL11A2):c.-21C>G rs767695417
NM_080680.3(COL11A2):c.-44G>A rs750744838
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539
NM_080680.3(COL11A2):c.1119+14G>A rs1554223383
NM_080680.3(COL11A2):c.1119+42G>T rs41317102
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192
NM_080680.3(COL11A2):c.1179+10G>A rs2744507
NM_080680.3(COL11A2):c.1221G>A (p.Ala407=) rs1554221935
NM_080680.3(COL11A2):c.1236C>G (p.Pro412=) rs541288921
NM_080680.3(COL11A2):c.1260C>T (p.Gly420=) rs779224706
NM_080680.3(COL11A2):c.1284+15T>C rs1057524527
NM_080680.3(COL11A2):c.1285-58A>G rs115849873
NM_080680.3(COL11A2):c.1359+17del rs765250820
NM_080680.3(COL11A2):c.1360-7A>C rs3129201
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482
NM_080680.3(COL11A2):c.1524C>T (p.Gly508=) rs1465511059
NM_080680.3(COL11A2):c.1557+19T>C rs374716901
NM_080680.3(COL11A2):c.1612-10G>C rs182657680
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.3(COL11A2):c.1665+15C>A rs781663197
NM_080680.3(COL11A2):c.1665+17C>T rs543296211
NM_080680.3(COL11A2):c.1719+19G>A rs752762822
NM_080680.3(COL11A2):c.1720-4G>T rs369678506
NM_080680.3(COL11A2):c.1774-9C>T rs148243956
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.1806G>A (p.Leu602=) rs1583343003
NM_080680.3(COL11A2):c.1818+42G>A rs73741534
NM_080680.3(COL11A2):c.1819-10G>A rs3129202
NM_080680.3(COL11A2):c.1819-18_1819-9del rs767645840
NM_080680.3(COL11A2):c.1851A>G (p.Pro617=) rs768060130
NM_080680.3(COL11A2):c.1875C>T (p.Gly625=) rs141815296
NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter) rs1554226209
NM_080680.3(COL11A2):c.1917+70G>T rs2076311
NM_080680.3(COL11A2):c.1971+12C>T rs201383281
NM_080680.3(COL11A2):c.1971+20C>T rs770912127
NM_080680.3(COL11A2):c.1972-16C>T rs117435723
NM_080680.3(COL11A2):c.1980C>T (p.Pro660=) rs2229786
NM_080680.3(COL11A2):c.2017-5T>G rs200523422
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=) rs753871660
NM_080680.3(COL11A2):c.2069C>T (p.Pro690Leu) rs144992893
NM_080680.3(COL11A2):c.2085G>A (p.Lys695=) rs368770525
NM_080680.3(COL11A2):c.2115+32G>T rs41317098
NM_080680.3(COL11A2):c.2115+7T>C rs186051366
NM_080680.3(COL11A2):c.2116-8T>C rs778098198
NM_080680.3(COL11A2):c.2136A>C (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2173G>A (p.Val725Met) rs1554219686
NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter) rs768569721
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262
NM_080680.3(COL11A2):c.2187G>C (p.Arg729=) rs551411073
NM_080680.3(COL11A2):c.2214+19G>A rs370515541
NM_080680.3(COL11A2):c.2214+88G>C rs2254287
NM_080680.3(COL11A2):c.2215-9C>G rs373659846
NM_080680.3(COL11A2):c.2268+37T>C rs2071025
NM_080680.3(COL11A2):c.2268+8G>A rs373463428
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080680.3(COL11A2):c.232+19G>A rs766263650
NM_080680.3(COL11A2):c.233-8G>T rs375268140
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.3(COL11A2):c.2430+15C>T rs1471667955
NM_080680.3(COL11A2):c.2430+19C>T rs764083806
NM_080680.3(COL11A2):c.2430+51G>C rs2855428
NM_080680.3(COL11A2):c.2431-11G>A rs368695514
NM_080680.3(COL11A2):c.2431-18del rs9280359
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2484+22C>G rs2744512
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477
NM_080680.3(COL11A2):c.2583+1G>A rs1554218503
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2628+14G>A rs559123089
NM_080680.3(COL11A2):c.2628+3G>A rs970901
NM_080680.3(COL11A2):c.2629-57G>A rs970902
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2730A>G (p.Gly910=) rs1554218154
NM_080680.3(COL11A2):c.2737-93T>C rs2855432
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.3(COL11A2):c.2809G>A (p.Gly937Ser) rs993223370
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824
NM_080680.3(COL11A2):c.2988+14C>G rs1554217416
NM_080680.3(COL11A2):c.2988+57A>C rs973233
NM_080680.3(COL11A2):c.3043-10G>A rs1583313311
NM_080680.3(COL11A2):c.3043-65T>C rs2855434
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser) rs1057524643
NM_080680.3(COL11A2):c.3150+15A>C rs2855436
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910
NM_080680.3(COL11A2):c.3197_3202dup (p.Gly1066_Pro1067dup) rs1554216723
NM_080680.3(COL11A2):c.324T>C (p.Gly108=) rs935876736
NM_080680.3(COL11A2):c.3258+60C>G rs73741524
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_080680.3(COL11A2):c.3313-11C>T rs2855437
NM_080680.3(COL11A2):c.3313-20_3313-17del rs574904915
NM_080680.3(COL11A2):c.3366+21del rs764291451
NM_080680.3(COL11A2):c.3367-53del rs9280358
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp) rs768988213
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911
NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs) rs1554225999
NM_080680.3(COL11A2):c.3474+89A>G rs2855440
NM_080680.3(COL11A2):c.3480G>T (p.Leu1160Phe) rs927537693
NM_080680.3(COL11A2):c.3528+8_3528+9del rs1343647230
NM_080680.3(COL11A2):c.3529-44A>G rs16868900
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.3(COL11A2):c.3543C>T (p.Pro1181=) rs1554215751
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958
NM_080680.3(COL11A2):c.3582+88A>G rs41317094
NM_080680.3(COL11A2):c.3583-3C>T rs727502939
NM_080680.3(COL11A2):c.3583-5T>C rs183536190
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys) rs553025178
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_080680.3(COL11A2):c.3636+74G>C rs45596935
NM_080680.3(COL11A2):c.3637-19G>T rs1427818109
NM_080680.3(COL11A2):c.3637-66G>A rs2855441
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser) rs142500487
NM_080680.3(COL11A2):c.3690+9C>T rs1397368233
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.3(COL11A2):c.3798+99G>A rs115196704
NM_080680.3(COL11A2):c.3831C>T (p.Pro1277=) rs1007732519
NM_080680.3(COL11A2):c.3852+94C>T rs2855446
NM_080680.3(COL11A2):c.3853-39G>A rs2855448
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784
NM_080680.3(COL11A2):c.3960+235G>A rs73741509
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431
NM_080680.3(COL11A2):c.3999A>G (p.Gly1333=) rs201392156
NM_080680.3(COL11A2):c.4015-81G>A rs2855450
NM_080680.3(COL11A2):c.4015-82T>C rs2855449
NM_080680.3(COL11A2):c.4015-8T>C rs377001136
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268
NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=) rs537455619
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=) rs201642192
NM_080680.3(COL11A2):c.4230+13C>G rs200051654
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333
NM_080680.3(COL11A2):c.4338+19C>A rs1554212804
NM_080680.3(COL11A2):c.4339-49G>T rs2855453
NM_080680.3(COL11A2):c.4344C>A (p.Ile1448=) rs554269032
NM_080680.3(COL11A2):c.4356C>T (p.Ser1452=) rs199515114
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058
NM_080680.3(COL11A2):c.4392+12C>T rs117267045
NM_080680.3(COL11A2):c.4393-28C>T rs144062635
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850
NM_080680.3(COL11A2):c.4689C>T (p.Thr1563=) rs1057523656
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458
NM_080680.3(COL11A2):c.4750+286C>T rs79131379
NM_080680.3(COL11A2):c.4751-9A>G rs555680585
NM_080680.3(COL11A2):c.4755G>C (p.Glu1585Asp) rs140553708
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080680.3(COL11A2):c.4821A>C (p.Ala1607=) rs749261447
NM_080680.3(COL11A2):c.4863+7G>A rs200947059
NM_080680.3(COL11A2):c.4864-32_4864-7del rs767389906
NM_080680.3(COL11A2):c.4864-64C>T rs73408005
NM_080680.3(COL11A2):c.4864-88C>T rs2744514
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.3(COL11A2):c.5071-10C>T rs771886624
NM_080680.3(COL11A2):c.5071-5T>G rs368309085
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp) rs534700620
NM_080680.3(COL11A2):c.5152C>A (p.Leu1718Met) rs1413052565
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080680.3(COL11A2):c.606+11C>T rs368302768
NM_080680.3(COL11A2):c.678G>A (p.Leu226=) rs1477141287
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080680.3(COL11A2):c.789C>T (p.Pro263=) rs1480123800
NM_080680.3(COL11A2):c.798+67C>T rs772701006
NM_080680.3(COL11A2):c.799-278T>C rs3129200
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.83-55A>T rs56297647
NM_080680.3(COL11A2):c.876+128T>C rs139969885
NM_080680.3(COL11A2):c.876+31C>T rs113453266
NM_080680.3(COL11A2):c.877-291G>C rs2744505
NM_080680.3(COL11A2):c.877-34C>T rs116165521
NM_080680.3(COL11A2):c.877-4T>A rs1799907
NM_080680.3(COL11A2):c.882C>T (p.Pro294=) rs566296770
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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