ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic for Craniosynostosis syndrome; Seizure; Fetal growth restriction; Atypical behavior; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Difficulty walking; Intellectual disability, severe

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	rs1555103652

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