ClinVar Miner

List of variants studied for type 2 collagenopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_004273.5(CHST3):c.*4533C>T rs730720 0.44450
NM_004273.5(CHST3):c.*4107T>C rs731027 0.44435
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39647
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34681
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19352
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04774
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04770
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03944
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03755
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_004273.5(CHST3):c.-274G>T rs146305825 0.02017
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01828
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01185
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00817
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_001844.5(COL2A1):c.*305G>A rs532700241 0.00516
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00296
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00258
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_001844.5(COL2A1):c.1366-13C>A rs200984998 0.00055
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_001844.5(COL2A1):c.*28C>T rs41272775 0.00051
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001844.5(COL2A1):c.4074+12G>T rs201312340 0.00046
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) rs137948104 0.00046
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) rs533540496 0.00038
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00025
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_001844.5(COL2A1):c.*158C>A rs867067070 0.00015
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00010
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_001844.5(COL2A1):c.*373G>C rs990523451 0.00006
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) rs199726428 0.00006
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00006
NM_001844.5(COL2A1):c.1680+8G>T rs754310324 0.00005
NM_001844.5(COL2A1):c.1680+9C>A rs371857655 0.00005
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) rs2276459 0.00003
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) rs778382364 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_001844.5(COL2A1):c.*331G>A rs1227723645 0.00002
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 0.00002
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) rs756360655 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_001844.5(COL2A1):c.-15G>T rs886049450 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) rs886049446 0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) rs374156023 0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) rs202105427 0.00001
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377 0.00001
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) rs928430270 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_001011658.4(TRAPPC2):c.*1303del rs35590746
NM_001011658.4(TRAPPC2):c.*1848dup rs200158505
NM_001011658.4(TRAPPC2):c.*2104TG[4] rs199924403
NM_001011658.4(TRAPPC2):c.*263dup rs1057515794
NM_001011658.4(TRAPPC2):c.*266_*267insT rs1057515793
NM_001011658.4(TRAPPC2):c.*950_*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*956_*957insTTTTTTTT rs57103709
NM_001011658.4(TRAPPC2):c.*956dup rs57103709
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT rs1057515790
NM_001844.5(COL2A1):c.*120C>G rs886049443
NM_001844.5(COL2A1):c.*131C>T rs886049442
NM_001844.5(COL2A1):c.*406A>G rs886049441
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) rs886049448
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) rs886049449
NM_001844.5(COL2A1):c.1528-2del
NM_001844.5(COL2A1):c.1995+5G>A rs1449516565
NM_001844.5(COL2A1):c.2410-13T>G rs574507277
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter)
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) rs1938961773
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) rs886049445
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) rs886049444
NM_001844.5(COL2A1):c.4317+9G>C rs1938570357
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) rs958614345
NM_001844.5(COL2A1):c.532-3C>A rs755887776
NM_001844.5(COL2A1):c.924+14A>C rs1475810942
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*2349A>G rs4148948
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.*4421G>C rs730722
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.-270del rs538907004
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143

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