List of variants studied for X-linked Opitz G/BBB syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NG_008197.2:g.(218402_271087)_(271804_315503)dup
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del)	rs1569270035
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)	rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs)	rs1569268013
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
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

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