List of variants studied for X-linked Opitz G/BBB syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)	rs147106995	0.00240
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)	rs745554420	0.00001
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)	rs1556004400
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)	rs1556004366
NM_000381.4(MID1):c.1454del (p.Pro485fs)	rs1556003200
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.1725G>A (p.Trp575Ter)	rs1556001968
NM_000381.4(MID1):c.1798dup (p.His600fs)	rs398123342
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)	rs1556001856
NM_000381.4(MID1):c.757-1G>C	rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)	rs1555895704
NM_000381.4(MID1):c.922del (p.Arg308fs)	rs1555894390

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