ClinVar Miner

List of variants studied for Bohring-Opitz syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_001164603.1(ASXL1):c.-159G>C rs886056590
NM_001164603.1(ASXL1):c.-178C>G rs886056589
NM_001164603.1(ASXL1):c.-221C>T rs886056588
NM_001164603.1(ASXL1):c.-223A>T rs886056587
NM_001164603.1(ASXL1):c.-239C>G rs886056586
NM_001164603.1(ASXL1):c.-265G>T rs886056585
NM_001164603.1(ASXL1):c.-282C>T rs530763476
NM_001164603.1(ASXL1):c.-32G>C rs886056595
NM_001164603.1(ASXL1):c.-392G>A rs886056584
NM_001164603.1(ASXL1):c.-88G>C rs886056594
NM_001164603.1(ASXL1):c.-88_-86GCC[5] rs886056593
NM_001164603.1(ASXL1):c.-92C>A rs886056592
NM_001164603.1(ASXL1):c.-93C>G rs534633106
NM_001164603.1(ASXL1):c.-94C>G rs886056591
NM_001164603.1(ASXL1):c.16_18AAG[3] (p.Lys9del) rs752094508
NM_001164603.1(ASXL1):c.252+11T>C rs143337375
NM_001363734.1(ASXL1):c.1359_1360TG[1] (p.Val454fs) rs777537805
NM_015338.5(ASXL1):c.*1016C>T rs574597562
NM_015338.5(ASXL1):c.*1137C>T rs886056606
NM_015338.5(ASXL1):c.*1153T>C rs886056607
NM_015338.5(ASXL1):c.*1178G>A rs886056608
NM_015338.5(ASXL1):c.*1185C>T rs886056609
NM_015338.5(ASXL1):c.*1230C>T rs886056610
NM_015338.5(ASXL1):c.*1238C>T rs142200477
NM_015338.5(ASXL1):c.*1342T>G rs561909665
NM_015338.5(ASXL1):c.*1556_*1557del rs770877952
NM_015338.5(ASXL1):c.*1580T>C rs141465097
NM_015338.5(ASXL1):c.*1687C>T rs551790630
NM_015338.5(ASXL1):c.*1813C>T rs41289854
NM_015338.5(ASXL1):c.*1814G>A rs568052637
NM_015338.5(ASXL1):c.*1970G>A rs117307643
NM_015338.5(ASXL1):c.*22A>G rs2295764
NM_015338.5(ASXL1):c.*278G>A rs75599685
NM_015338.5(ASXL1):c.*285G>C rs55805951
NM_015338.5(ASXL1):c.*394A>G rs2295762
NM_015338.5(ASXL1):c.*395C>T rs886056604
NM_015338.5(ASXL1):c.*547C>T rs886056605
NM_015338.5(ASXL1):c.*548G>C rs41289852
NM_015338.5(ASXL1):c.*682G>A rs189281556
NM_015338.5(ASXL1):c.*78A>G rs529026401
NM_015338.5(ASXL1):c.*87A>G rs184265056
NM_015338.5(ASXL1):c.*90T>C rs2295763
NM_015338.5(ASXL1):c.*921T>C rs770860269
NM_015338.5(ASXL1):c.1162G>A (p.Val388Ile) rs145699348
NM_015338.5(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583
NM_015338.5(ASXL1):c.1268A>G (p.Asn423Ser) rs886056598
NM_015338.5(ASXL1):c.1336G>A (p.Val446Ile) rs376229687
NM_015338.5(ASXL1):c.1343T>C (p.Leu448Pro) rs886056599
NM_015338.5(ASXL1):c.1388G>C (p.Ser463Thr) rs373486603
NM_015338.5(ASXL1):c.1488C>G (p.Asn496Lys) rs769017790
NM_015338.5(ASXL1):c.1657G>T (p.Glu553Ter) rs1569326367
NM_015338.5(ASXL1):c.1929G>T (p.Gly643=) rs373998853
NM_015338.5(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609
NM_015338.5(ASXL1):c.1965C>T (p.Thr655=) rs79865730
NM_015338.5(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.5(ASXL1):c.2127C>G (p.Ala709=) rs140458480
NM_015338.5(ASXL1):c.2247C>T (p.Leu749=) rs772526658
NM_015338.5(ASXL1):c.2250C>T (p.Pro750=) rs35712951
NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile) rs6058693
NM_015338.5(ASXL1):c.2337T>G (p.Pro779=) rs143613684
NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454
NM_015338.5(ASXL1):c.2419G>A (p.Val807Ile) rs138624526
NM_015338.5(ASXL1):c.2432A>G (p.Asn811Ser) rs758473430
NM_015338.5(ASXL1):c.2526T>C (p.Asn842=) rs144841799
NM_015338.5(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.5(ASXL1):c.2796A>G (p.Lys932=) rs886056600
NM_015338.5(ASXL1):c.2802T>C (p.Ala934=) rs571165637
NM_015338.5(ASXL1):c.2908A>G (p.Ser970Gly) rs886056601
NM_015338.5(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837
NM_015338.5(ASXL1):c.2985C>T (p.His995=) rs62206933
NM_015338.5(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525
NM_015338.5(ASXL1):c.3212C>T (p.Ala1071Val) rs531415735
NM_015338.5(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934
NM_015338.5(ASXL1):c.3351C>A (p.Pro1117=) rs373603259
NM_015338.5(ASXL1):c.3360G>A (p.Lys1120=) rs886056602
NM_015338.5(ASXL1):c.3378C>T (p.His1126=) rs137912806
NM_015338.5(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062
NM_015338.5(ASXL1):c.3513G>A (p.Arg1171=) rs150391716
NM_015338.5(ASXL1):c.3519G>A (p.Leu1173=) rs117901891
NM_015338.5(ASXL1):c.3612C>G (p.Cys1204Trp) rs201397030
NM_015338.5(ASXL1):c.3663A>C (p.Thr1221=) rs772983046
NM_015338.5(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057
NM_015338.5(ASXL1):c.374-9C>T rs6087903
NM_015338.5(ASXL1):c.3745A>G (p.Met1249Val) rs146141075
NM_015338.5(ASXL1):c.3759T>C (p.Ser1253=) rs4911231
NM_015338.5(ASXL1):c.3776C>T (p.Pro1259Leu) rs201338763
NM_015338.5(ASXL1):c.3914T>A (p.Phe1305Tyr) rs745736272
NM_015338.5(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203
NM_015338.5(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.5(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581
NM_015338.5(ASXL1):c.4098C>T (p.Ser1366=) rs143041800
NM_015338.5(ASXL1):c.4099G>A (p.Val1367Ile) rs147456014
NM_015338.5(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648
NM_015338.5(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795
NM_015338.5(ASXL1):c.4603G>A (p.Val1535Ile) rs886056603
NM_015338.5(ASXL1):c.502A>T (p.Met168Leu) rs200503314
NM_015338.5(ASXL1):c.582C>T (p.His194=) rs116633791
NM_015338.5(ASXL1):c.890C>T (p.Thr297Met) rs373599045
NM_015338.5(ASXL1):c.891G>A (p.Thr297=) rs758987230
NM_015338.5(ASXL1):c.930C>T (p.Asn310=) rs141414870
NM_015338.5(ASXL1):c.991C>G (p.His331Asp) rs886056597

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.