ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP
NM_000089.3(COL1A2):c.*195C>T rs190115417
NM_000089.3(COL1A2):c.*205A>G rs6955879
NM_000089.3(COL1A2):c.*283T>C rs114837909
NM_000089.3(COL1A2):c.*415T>G rs148913603
NM_000089.3(COL1A2):c.*804G>T rs1062394
NM_000089.3(COL1A2):c.-287C>T rs190926256
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.783T>C (p.Pro261=) rs200436925
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000302.3(PLOD1):c.*440G>C rs11553681
NM_000302.3(PLOD1):c.*71C>G rs2230899
NM_000302.3(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.3(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.3(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.3(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.3(PLOD1):c.302+15G>A rs140227667
NM_000302.3(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_001127464.2(ZNF469):c.*46C>A rs78600508
NM_001127464.2(ZNF469):c.*845T>C rs7187709
NM_001127464.2(ZNF469):c.*907G>A rs1048192
NM_001127464.2(ZNF469):c.*921_*922insG rs11382974
NM_001127464.2(ZNF469):c.10244G>T (p.Gly3415Val) rs140056980
NM_001127464.2(ZNF469):c.10515C>T (p.Pro3505=) rs78022634
NM_001127464.2(ZNF469):c.10624G>A (p.Ala3542Thr) rs57052487
NM_001127464.2(ZNF469):c.10891G>A (p.Gly3631Arg) rs3812951
NM_001127464.2(ZNF469):c.11325G>C (p.Gly3775=) rs150233193
NM_001127464.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864
NM_001127464.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803
NM_001127464.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121
NM_001127464.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506
NM_001127464.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233
NM_001127464.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062
NM_001127464.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704
NM_001127464.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362
NM_001127464.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144
NM_001127464.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001127464.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633
NM_001127464.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001127464.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699
NM_001127464.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823
NM_001127464.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217
NM_001127464.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813
NM_001127464.2(ZNF469):c.3432T>C (p.Arg1144=) rs111557381
NM_001127464.2(ZNF469):c.3566C>T (p.Pro1189Leu) rs115183769
NM_001127464.2(ZNF469):c.3810G>C (p.Val1270=) rs115790991
NM_001127464.2(ZNF469):c.4279C>G (p.Leu1427Val) rs116532825
NM_001127464.2(ZNF469):c.4322A>G (p.Tyr1441Cys) rs116072997
NM_001127464.2(ZNF469):c.4337C>T (p.Ala1446Val) rs199897247
NM_001127464.2(ZNF469):c.4350C>T (p.Ser1450=) rs74032865
NM_001127464.2(ZNF469):c.4800G>A (p.Thr1600=) rs141666432
NM_001127464.2(ZNF469):c.4842G>A (p.Ser1614=) rs117310292
NM_001127464.2(ZNF469):c.5003C>T (p.Pro1668Leu) rs115487796
NM_001127464.2(ZNF469):c.5613C>T (p.Ser1871=) rs111986360
NM_001127464.2(ZNF469):c.5948G>A (p.Gly1983Asp) rs79155191
NM_001127464.2(ZNF469):c.62G>A (p.Arg21His) rs145178398
NM_001127464.2(ZNF469):c.6386G>A (p.Arg2129Lys) rs13334190
NM_001127464.2(ZNF469):c.6468G>T (p.Thr2156=) rs12919507
NM_001127464.2(ZNF469):c.6693G>A (p.Glu2231=) rs76442115
NM_001127464.2(ZNF469):c.6695A>G (p.Lys2232Arg) rs75136873
NM_001127464.2(ZNF469):c.6860C>G (p.Pro2287Arg) rs77490207
NM_001127464.2(ZNF469):c.7424C>A (p.Ala2475Glu) rs141218390
NM_001127464.2(ZNF469):c.7721T>C (p.Leu2574Pro) rs150488251
NM_001127464.2(ZNF469):c.8037G>A (p.Ala2679=) rs116696830
NM_001127464.2(ZNF469):c.8128G>A (p.Ala2710Thr) rs3812955
NM_001127464.2(ZNF469):c.8246A>T (p.Asp2749Val) rs3812954
NM_001127464.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524
NM_001127464.2(ZNF469):c.8920A>C (p.Met2974Leu) rs141776185
NM_001127464.2(ZNF469):c.9471C>G (p.Ala3157=) rs273585636
NM_014244.4(ADAMTS2):c.*1247C>T rs77506744
NM_014244.4(ADAMTS2):c.*1437_*1438delGG rs375426260
NM_014244.4(ADAMTS2):c.*1579_*1585delTTCTTAA rs539443462
NM_014244.4(ADAMTS2):c.*1819G>A rs115989271
NM_014244.4(ADAMTS2):c.*2196T>A rs147985762
NM_014244.4(ADAMTS2):c.*2301C>T rs115104288
NM_014244.4(ADAMTS2):c.*2439C>T rs78886769
NM_014244.4(ADAMTS2):c.*2918G>A rs60250623
NM_014244.4(ADAMTS2):c.*847C>T rs78622875
NM_014244.4(ADAMTS2):c.*853G>T rs17666900
NM_014244.4(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.4(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.4(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.4(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.4(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.4(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.4(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.4(ADAMTS2):c.68_70delTGC (p.Leu23del) rs568040559
NM_014244.4(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.4(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.4(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.4(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372
NM_018699.3(PRDM5):c.660G>A (p.Gln220=) rs74320998
NM_018699.3(PRDM5):c.849G>A (p.Gln283=) rs17051264

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