ClinVar Miner

List of variants reported as uncertain significance for Bohring-Opitz syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 50
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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.-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.-94C>G rs886056591
NM_001363734.1(ASXL1):c.1359_1360TG[1] (p.Val454fs) rs777537805
NM_001363734.1(ASXL1):c.3926_3928AGA[1] (p.Lys1310del) rs752856195
NM_001363734.1(ASXL1):c.4099_4101TCT[1] (p.Ser1368del) rs1203207717
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.*1342T>G rs561909665
NM_015338.5(ASXL1):c.*1556_*1557del rs770877952
NM_015338.5(ASXL1):c.*395C>T rs886056604
NM_015338.5(ASXL1):c.*547C>T rs886056605
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.2127C>G (p.Ala709=) rs140458480
NM_015338.5(ASXL1):c.2247C>T (p.Leu749=) rs772526658
NM_015338.5(ASXL1):c.2796A>G (p.Lys932=) rs886056600
NM_015338.5(ASXL1):c.2908A>G (p.Ser970Gly) rs886056601
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.3663A>C (p.Thr1221=) rs772983046
NM_015338.5(ASXL1):c.3914T>A (p.Phe1305Tyr) rs745736272
NM_015338.5(ASXL1):c.4099G>A (p.Val1367Ile) rs147456014
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.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
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser)

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