ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420
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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