ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic for Seizures; Behavioral abnormality; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Craniosynostosis; Intrauterine growth retardation; Difficulty walking; Intellectual disability, severe

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652

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