ClinVar Miner

List of variants in gene GRIN2B reported as pathogenic by GenomeConnect - Simons Searchlight

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro) rs1131691702
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) rs1948651947
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) rs1555133077

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