ClinVar Miner

List of variants reported as pathogenic for Opitz G/BBB syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 19
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HGVS dbSNP
MID1, 24-BP DUP
MID1, EX1 DUP
NM_000381.3(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.3(MID1):c.1483C>T (p.Arg495Ter) rs745554420
NM_000381.3(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.3(MID1):c.1798dupC (p.His600Profs) rs398123342
NM_000381.3(MID1):c.1917delC (p.Thr640Profs)
NM_000381.3(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_015330.4(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.4(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031
NM_033290.3(MID1):c.1314_1316del (p.Met438del)
NM_033290.3(MID1):c.1546_1547del (p.Pro519Terfs)
NM_033290.3(MID1):c.1558dup (p.Glu520Glyfs)
NM_033290.3(MID1):c.1608_1611dup (p.Ser538Terfs) rs1556003095
NM_033290.3(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_033290.3(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_033290.3(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_033290.3(MID1):c.757-1G>C rs1555895725
NM_033290.3(MID1):c.884T>C (p.Leu295Pro) rs104894866

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