ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome type 7B by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.94394614G>A
NC_000007.14:g.94394635A>T
NC_000007.14:g.94394768C>A
NC_000007.14:g.94394828T>G
NC_000007.14:g.94394838C>T
NC_000007.14:g.94394880G>A
NC_000007.14:g.94394882G>C
NM_000088.3(COL1A1):c.*1087C>T rs557843360
NM_000088.3(COL1A1):c.*1165C>G rs149419718
NM_000088.3(COL1A1):c.*1175T>G rs75713851
NM_000088.3(COL1A1):c.*1205C>G rs551536386
NM_000088.3(COL1A1):c.*1233G>A rs73987442
NM_000088.3(COL1A1):c.*1265C>T rs567249120
NM_000088.3(COL1A1):c.*1324A>G rs886053140
NM_000088.3(COL1A1):c.*194G>A rs886053158
NM_000088.3(COL1A1):c.*202A>G rs564917505
NM_000088.3(COL1A1):c.*21G>C rs201085309
NM_000088.3(COL1A1):c.*378C>G rs148131473
NM_000088.3(COL1A1):c.*437A>C rs886053150
NM_000088.3(COL1A1):c.*623G>A rs886053149
NM_000088.3(COL1A1):c.*631G>A rs569577942
NM_000088.3(COL1A1):c.*682C>T rs77720683
NM_000088.3(COL1A1):c.*733G>A rs886053148
NM_000088.3(COL1A1):c.*744C>T rs1061947
NM_000088.3(COL1A1):c.*795C>T rs886053147
NM_000088.3(COL1A1):c.*815A>G rs886053146
NM_000088.3(COL1A1):c.*88T>C rs1061237
NM_000088.3(COL1A1):c.*981G>C rs574167621
NM_000088.3(COL1A1):c.-115G>A rs886053164
NM_000088.3(COL1A1):c.-23G>A rs200689194
NM_000088.3(COL1A1):c.-66G>A rs565562045
NM_000088.3(COL1A1):c.-98G>C rs574683904
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) rs149301001
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1461+13G>T rs371161009
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1669-10C>A rs886053162
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436
NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys) rs753683126
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3099+7T>G rs201682029
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=) rs148737409
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3630C>T (p.His1210=) rs745320719
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3815-12G>T rs201066018
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) rs763409550
NM_000088.3(COL1A1):c.750+12G>T rs79480112
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp) rs151171179
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000088.3(COL1A1):c.957+15C>T rs779096006
NM_000088.4(COL1A1):c.*1011T>C
NM_000088.4(COL1A1):c.*1027G>T
NM_000088.4(COL1A1):c.*1088G>A
NM_000088.4(COL1A1):c.*1151C>T
NM_000088.4(COL1A1):c.*120T>C
NM_000088.4(COL1A1):c.*1316C>G
NM_000088.4(COL1A1):c.*285C>A
NM_000088.4(COL1A1):c.*342C>A
NM_000088.4(COL1A1):c.*356T>A
NM_000088.4(COL1A1):c.*502C>T
NM_000088.4(COL1A1):c.*548C>A
NM_000088.4(COL1A1):c.*73C>A
NM_000088.4(COL1A1):c.*836C>T
NM_000088.4(COL1A1):c.*837G>A
NM_000088.4(COL1A1):c.*88T>A
NM_000088.4(COL1A1):c.*93A>G
NM_000088.4(COL1A1):c.-57G>A
NM_000088.4(COL1A1):c.-98G>A
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
NM_000088.4(COL1A1):c.1155+12C>T
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
NM_000088.4(COL1A1):c.1615-14C>T
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) rs372044347
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
NM_000088.4(COL1A1):c.3815-10C>T
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) rs757759451
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351
NM_000088.4(COL1A1):c.804+15A>C
NM_000088.4(COL1A1):c.957+10C>A rs376179885
NM_000089.3(COL1A2):c.*194C>T rs1060399
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.*605A>G rs537557756
NM_000089.3(COL1A2):c.*618T>C rs557107553
NM_000089.3(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.*804G>T rs1062394
NM_000089.3(COL1A2):c.-188C>T rs886062512
NM_000089.3(COL1A2):c.-287C>T rs190926256
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-428G>A rs753974789
NM_000089.3(COL1A2):c.-87C>T rs886062513
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.1036-14G>T rs114322680
NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740
NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1252-6del rs886062516
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1611+9T>A rs200333208
NM_000089.3(COL1A2):c.1665+15A>G rs421587
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460
NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.246T>C (p.Asp82=) rs1800222
NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.3(COL1A2):c.279+12T>C rs751199493
NM_000089.3(COL1A2):c.2853T>C (p.Pro951=) rs148362963
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) rs200357942
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
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.3754A>G (p.Thr1252Ala) rs761465504
NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082
NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.3(COL1A2):c.783T>C (p.Pro261=) rs200436925
NM_000089.3(COL1A2):c.808G>A (p.Val270Ile) rs368468
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.87T>C (p.Thr29=) rs1801182
NM_000089.3(COL1A2):c.892-13C>G rs200532328
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.4(COL1A2):c.*131G>T
NM_000089.4(COL1A2):c.*193C>T
NM_000089.4(COL1A2):c.*329A>G
NM_000089.4(COL1A2):c.*465G>T
NM_000089.4(COL1A2):c.*469A>G
NM_000089.4(COL1A2):c.*545A>G
NM_000089.4(COL1A2):c.*561T>C
NM_000089.4(COL1A2):c.*584A>T
NM_000089.4(COL1A2):c.*601A>G
NM_000089.4(COL1A2):c.*638C>T
NM_000089.4(COL1A2):c.*814A>G
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=)
NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=)
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=)
NM_000089.4(COL1A2):c.2187+14A>G
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=)
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr)
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg)
NM_000089.4(COL1A2):c.3106-11T>C
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=)
NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=)
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn)
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=)
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=)
NM_000089.4(COL1A2):c.384T>A (p.Pro128=)
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=)
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe)
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887
NM_000089.4(COL1A2):c.594+5A>T rs200744314
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)

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