ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP
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.1252-6delG rs886062516
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.1645C>G (p.Pro549Ala) rs42524
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.2168A>G (p.Asn723Ser) rs189374343
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.3014G>A (p.Arg1005His) rs200357942
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.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.3883T>C (p.Ser1295Pro) rs757449082
NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.3(COL1A2):c.594+5A>T rs200744314
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.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

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