ClinVar Miner

List of variants in gene MID1 reported as pathogenic for Opitz G/BBB syndrome

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP
MID1, 24-BP DUP
MID1, EX1 DUP
NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) rs1569270035
NM_033290.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_033290.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420
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.1798dup (p.His600fs) rs398123342
NM_033290.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_033290.4(MID1):c.1917del (p.Thr640fs) rs1569265497
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.829C>T (p.Arg277Ter) rs1555895704
NM_033290.4(MID1):c.884T>C (p.Leu295Pro) rs104894866

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