ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01050
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00021
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00003
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_000834.5(GRIN2B):c.3024C>A (p.Asn1008Lys) rs1948602060
NM_000834.5(GRIN2B):c.3508G>C (p.Gly1170Arg)
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616

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