List of variants reported as pathogenic for Opitz G/BBB syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)	rs745554420	0.00001
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)	rs1556004366
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter)	rs1556003095
NM_000381.4(MID1):c.1663A>G (p.Ile555Val)	rs398123341
NM_000381.4(MID1):c.1798dup (p.His600fs)	rs398123342
NM_000381.4(MID1):c.757-1G>C	rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)	rs1555895704

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