ClinVar Miner

List of variants reported as uncertain significance for Ectopia lentis by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.*1007G>T rs886051236
NM_000138.4(FBN1):c.*1396C>T rs886051235
NM_000138.4(FBN1):c.*1398G>C rs886051234
NM_000138.4(FBN1):c.*1477C>A rs886051233
NM_000138.4(FBN1):c.*1635C>A rs886051232
NM_000138.4(FBN1):c.*1672G>A rs886051231
NM_000138.4(FBN1):c.*1706C>A rs770825180
NM_000138.4(FBN1):c.*1733A>G rs886051230
NM_000138.4(FBN1):c.*1943G>T rs886051229
NM_000138.4(FBN1):c.*202_*203delAT rs766125141
NM_000138.4(FBN1):c.*2078G>T rs886051228
NM_000138.4(FBN1):c.*2091G>A rs575922741
NM_000138.4(FBN1):c.*2114T>A rs886051227
NM_000138.4(FBN1):c.*2221A>G rs886051226
NM_000138.4(FBN1):c.*2260C>A rs886051225
NM_000138.4(FBN1):c.*2421C>A rs886051224
NM_000138.4(FBN1):c.*2443G>T rs886051223
NM_000138.4(FBN1):c.*2533C>A rs886051222
NM_000138.4(FBN1):c.*254C>T rs886051243
NM_000138.4(FBN1):c.*2556G>A rs886051221
NM_000138.4(FBN1):c.*2578C>T rs761025257
NM_000138.4(FBN1):c.*2594G>T rs886051220
NM_000138.4(FBN1):c.*2638T>C rs886051219
NM_000138.4(FBN1):c.*268G>C rs886051242
NM_000138.4(FBN1):c.*286C>T rs886051241
NM_000138.4(FBN1):c.*406G>T rs886051240
NM_000138.4(FBN1):c.*724A>C rs886051239
NM_000138.4(FBN1):c.*938G>T rs886051238
NM_000138.4(FBN1):c.*948G>T rs749224599
NM_000138.4(FBN1):c.*987C>T rs886051237
NM_000138.4(FBN1):c.-132A>C rs886051255
NM_000138.4(FBN1):c.-136G>C rs879283668
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-319G>T rs886051256
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-387_-384delTCTC rs886051258
NM_000138.4(FBN1):c.-70C>A rs886051253
NM_000138.4(FBN1):c.-98G>T rs886051254
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.4(FBN1):c.1468+4C>A rs765579667
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945
NM_000138.4(FBN1):c.4336+11G>A rs886051249
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.4(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_019032.5(ADAMTSL4):c.*126G>A rs117403663
NM_019032.5(ADAMTSL4):c.*276G>A rs181259344
NM_019032.5(ADAMTSL4):c.*295G>C rs114181942
NM_019032.5(ADAMTSL4):c.*332A>G rs886045270
NM_019032.5(ADAMTSL4):c.*333G>A rs587633776
NM_019032.5(ADAMTSL4):c.*407C>T rs745843292
NM_019032.5(ADAMTSL4):c.*457_*458GT[1] rs886045271
NM_019032.5(ADAMTSL4):c.*636C>A rs35531650
NM_019032.5(ADAMTSL4):c.*640C>A rs776897541
NM_019032.5(ADAMTSL4):c.*670C>G rs774586242
NM_019032.5(ADAMTSL4):c.*674C>T rs886045272
NM_019032.5(ADAMTSL4):c.-100G>A rs886045266
NM_019032.5(ADAMTSL4):c.1007G>A (p.Gly336Asp) rs142354320
NM_019032.5(ADAMTSL4):c.1009G>A (p.Ala337Thr) rs374008923
NM_019032.5(ADAMTSL4):c.1032C>T (p.Asn344=) rs370107497
NM_019032.5(ADAMTSL4):c.1118C>A (p.Ala373Asp) rs749157895
NM_019032.5(ADAMTSL4):c.1131+15G>A rs772312644
NM_019032.5(ADAMTSL4):c.1131G>A (p.Ala377=) rs749108523
NM_019032.5(ADAMTSL4):c.1159C>G (p.Arg387Gly) rs763308439
NM_019032.5(ADAMTSL4):c.1268G>A (p.Arg423Gln) rs370381933
NM_019032.5(ADAMTSL4):c.1464G>A (p.Ser488=) rs587675749
NM_019032.5(ADAMTSL4):c.1534C>T (p.Arg512Trp) rs773512669
NM_019032.5(ADAMTSL4):c.1555C>T (p.Arg519Trp) rs369892162
NM_019032.5(ADAMTSL4):c.1750-10_1750-6del rs886045267
NM_019032.5(ADAMTSL4):c.1776C>T (p.Gly592=) rs749692173
NM_019032.5(ADAMTSL4):c.1777G>A (p.Val593Ile) rs757656099
NM_019032.5(ADAMTSL4):c.1860G>A (p.Pro620=) rs754436821
NM_019032.5(ADAMTSL4):c.1861+13C>T rs113919442
NM_019032.5(ADAMTSL4):c.1862-11C>T rs201593004
NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022
NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu) rs886045268
NM_019032.5(ADAMTSL4):c.2087C>T (p.Ser696Leu) rs115937511
NM_019032.5(ADAMTSL4):c.2121G>A (p.Ala707=) rs41317525
NM_019032.5(ADAMTSL4):c.2178-7C>A rs587746986
NM_019032.5(ADAMTSL4):c.2223C>T (p.Pro741=) rs587696191
NM_019032.5(ADAMTSL4):c.2265G>T (p.Gly755=) rs780658812
NM_019032.5(ADAMTSL4):c.2288C>G (p.Pro763Arg) rs56055939
NM_019032.5(ADAMTSL4):c.2288C>T (p.Pro763Leu) rs56055939
NM_019032.5(ADAMTSL4):c.232C>T (p.Leu78Phe) rs147688134
NM_019032.5(ADAMTSL4):c.2392C>T (p.Arg798Trp) rs763279620
NM_019032.5(ADAMTSL4):c.2559+9G>A rs12049100
NM_019032.5(ADAMTSL4):c.2580G>A (p.Thr860=) rs150680122
NM_019032.5(ADAMTSL4):c.2591G>A (p.Arg864Gln) rs143983374
NM_019032.5(ADAMTSL4):c.2703C>T (p.Arg901=) rs139006349
NM_019032.5(ADAMTSL4):c.2795G>A (p.Arg932His) rs202037366
NM_019032.5(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607
NM_019032.5(ADAMTSL4):c.2882C>T (p.Ala961Val) rs587695953
NM_019032.5(ADAMTSL4):c.2883C>G (p.Ala961=) rs148110558
NM_019032.5(ADAMTSL4):c.2944-8C>T rs372461420
NM_019032.5(ADAMTSL4):c.2963G>C (p.Gly988Ala) rs200172019
NM_019032.5(ADAMTSL4):c.3026_3028CTC[1] (p.Pro1010del) rs755998186
NM_019032.5(ADAMTSL4):c.3179G>A (p.Arg1060His) rs147697821
NM_019032.5(ADAMTSL4):c.514C>T (p.Arg172Cys) rs375564357
NM_019032.5(ADAMTSL4):c.531C>T (p.Ser177=) rs199802790
NM_019032.5(ADAMTSL4):c.584C>T (p.Pro195Leu) rs139990606
NM_019032.5(ADAMTSL4):c.749G>A (p.Arg250Gln) rs145673891
NM_019032.5(ADAMTSL4):c.87C>T (p.Ser29=) rs202059899
NM_019032.5(ADAMTSL4):c.88G>A (p.Gly30Arg) rs755040821
NM_019032.5(ADAMTSL4):c.920G>A (p.Arg307Gln) rs142705142

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.