ClinVar Miner

List of variants studied for Opitz G/BBB syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
MID1, 24-BP DUP
MID1, EX1 DUP
NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.5(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031
NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) rs1569270035
NM_033290.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_033290.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_033290.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_033290.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420
NM_033290.4(MID1):c.1495G>A (p.Val499Met)
NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) rs1569268029
NM_033290.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_033290.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_033290.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_033290.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_033290.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_033290.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_033290.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_033290.4(MID1):c.1917del (p.Thr640fs) rs1569265497
NM_033290.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_033290.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_033290.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_033290.4(MID1):c.757-1G>C rs1555895725
NM_033290.4(MID1):c.757-5831A>G rs1555896387
NM_033290.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_033290.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_033290.4(MID1):c.922del (p.Arg308fs) rs1555894390

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.