ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic by Mendelics

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln) rs763436882
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.2011-2_2038dup rs1591612370
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu) rs1591611001
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile) rs2136409777
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile) rs2136409732

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