ClinVar Miner

List of variants in gene GRIN2A reported as likely pathogenic

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Total variants: 27
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HGVS dbSNP
NM_000833.5(GRIN2A):c.1538C>T (p.Thr513Ile) rs1064796950
NM_000833.5(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_000833.5(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_000833.5(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_000833.5(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_000833.5(GRIN2A):c.1895C>T (p.Ser632Phe) rs1057520116
NM_000833.5(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_000833.5(GRIN2A):c.1937C>G (p.Thr646Arg) rs1000800098
NM_000833.5(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_000833.5(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_000833.5(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_000833.5(GRIN2A):c.2258G>C (p.Gly753Ala) rs1555488124
NM_000833.5(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_000833.5(GRIN2A):c.2595+5G>C rs1064794679
NM_000833.5(GRIN2A):c.3174C>A (p.His1058Gln) rs1064796658
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.1928C>A (p.Ala643Asp) rs879253875
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681

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