ClinVar Miner

List of variants reported as pathogenic for X-linked Opitz G/BBB syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
MID1, 24-BP DUP
MID1, EX1 DUP
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) rs1569270035
NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) rs1569268029

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