ClinVar Miner

List of variants in gene GRIN2A reported as pathogenic by Invitae

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Gene type:
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Total variants: 12
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HGVS dbSNP
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_9943593)_(9943838_?)del
NC_000016.9:g.(?_9984823)_(9984977_?)del
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer)
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)

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