ClinVar Miner

List of variants in gene GRIN2A reported as pathogenic

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Gene type:
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Total variants: 50
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HGVS dbSNP
GRCh37/hg19 16p13.2(chr16:10031589-10051402)x1
GRCh37/hg19 16p13.2(chr16:9915837-9916457)x1
GRCh37/hg19 16p13.2(chr16:9916365-10185615)x1
GRCh37/hg19 16p13.2(chr16:9923137-9923798)x1
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_9943593)_(9943838_?)del
NC_000016.9:g.(?_9984823)_(9984977_?)del
NM_000833.5(GRIN2A):c.1123-2A>G rs397518469
NM_000833.5(GRIN2A):c.1453del (p.His485fs) rs1555494781
NM_000833.5(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_000833.5(GRIN2A):c.1648del (p.Phe549_Leu550insTer)
NM_000833.5(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_000833.5(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_000833.5(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_000833.5(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_000833.5(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_000833.5(GRIN2A):c.2054T>G (p.Val685Gly) rs796052548
NM_000833.5(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_000833.5(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_000833.5(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_000833.5(GRIN2A):c.2890del (p.Gln964fs) rs886042168
NM_000833.5(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_000833.5(GRIN2A):c.3813G>A (p.Trp1271Ter) rs886043129
NM_000833.5(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_000833.5(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_000833.5(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del) rs1555494676
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) rs1439688451
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs) rs886041308
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318

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