ClinVar Miner

List of variants in gene GRIN2A reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 16
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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.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.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.1692del (p.Met564fs) rs886039604
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

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