ClinVar Miner

List of variants reported as likely pathogenic for Opitz G/BBB syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_015330.5(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_033290.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_033290.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_033290.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_033290.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_033290.4(MID1):c.922del (p.Arg308fs) rs1555894390

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