ClinVar Miner

List of variants in gene GRIN2A studied for Inborn genetic diseases

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Gene type:
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Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202 0.00143
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998 0.00133
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658 0.00076
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020 0.00039
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603 0.00039
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949 0.00031
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324 0.00030
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698 0.00028
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542 0.00024
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001134407.3(GRIN2A):c.1458C>A (p.Gly486=) rs144572467 0.00019
NM_001134407.3(GRIN2A):c.1155G>C (p.Leu385=) rs139119497 0.00015
NM_001134407.3(GRIN2A):c.963C>T (p.Tyr321=) rs368200727 0.00014
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291 0.00012
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666 0.00009
NM_001134407.3(GRIN2A):c.1533G>A (p.Ser511=) rs112848130 0.00007
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067 0.00007
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406 0.00007
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.1164C>T (p.Ala388=) rs151137679 0.00006
NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=) rs143779792 0.00006
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=) rs80138441 0.00006
NM_001134407.3(GRIN2A):c.559G>A (p.Val187Ile) rs751692867 0.00006
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124 0.00006
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00005
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=) rs758864728 0.00005
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915 0.00004
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3366T>G (p.Gly1122=) rs1060504864 0.00004
NM_001134407.3(GRIN2A):c.3919C>T (p.Pro1307Ser) rs148827608 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876 0.00004
NM_001134407.3(GRIN2A):c.2024A>C (p.Asp675Ala) rs75130648 0.00003
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160 0.00003
NM_001134407.3(GRIN2A):c.3051C>T (p.Ser1017=) rs773366584 0.00003
NM_001134407.3(GRIN2A):c.3426C>T (p.Pro1142=) rs150487431 0.00003
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00003
NM_001134407.3(GRIN2A):c.4205G>A (p.Arg1402Gln) rs74935155 0.00003
NM_001134407.3(GRIN2A):c.1201C>G (p.Pro401Ala) rs762535029 0.00002
NM_001134407.3(GRIN2A):c.2652C>T (p.Asp884=) rs755207993 0.00002
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363 0.00002
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr) rs753651908 0.00002
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser) rs199942034 0.00002
NM_001134407.3(GRIN2A):c.1437G>A (p.Leu479=) rs768988228 0.00001
NM_001134407.3(GRIN2A):c.1738A>G (p.Ser580Gly) rs777029084 0.00001
NM_001134407.3(GRIN2A):c.2238G>A (p.Lys746=) rs1473479428 0.00001
NM_001134407.3(GRIN2A):c.2681T>A (p.Met894Lys) rs775144380 0.00001
NM_001134407.3(GRIN2A):c.2696G>A (p.Arg899Gln) rs759145938 0.00001
NM_001134407.3(GRIN2A):c.2752C>T (p.Pro918Ser) rs778940856 0.00001
NM_001134407.3(GRIN2A):c.2809G>A (p.Asp937Asn) rs769602505 0.00001
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239 0.00001
NM_001134407.3(GRIN2A):c.3032G>A (p.Arg1011Gln) rs1163766811 0.00001
NM_001134407.3(GRIN2A):c.3163G>C (p.Glu1055Gln) rs370107080 0.00001
NM_001134407.3(GRIN2A):c.31G>C (p.Val11Leu) rs769657047 0.00001
NM_001134407.3(GRIN2A):c.3311C>T (p.Thr1104Ile) rs755577016 0.00001
NM_001134407.3(GRIN2A):c.3522T>A (p.Asn1174Lys) rs772104446 0.00001
NM_001134407.3(GRIN2A):c.3619T>C (p.Tyr1207His) rs587780355 0.00001
NM_001134407.3(GRIN2A):c.3879T>C (p.Asp1293=) rs1199650629 0.00001
NM_001134407.3(GRIN2A):c.4109C>G (p.Ser1370Cys) rs762981158 0.00001
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885 0.00001
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met) rs763500409 0.00001
NM_001134407.3(GRIN2A):c.583T>C (p.Phe195Leu) rs1445598953 0.00001
NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr) rs901717931 0.00001
NM_001134407.3(GRIN2A):c.1008-6T>G
NM_001134407.3(GRIN2A):c.100C>G (p.Leu34Val)
NM_001134407.3(GRIN2A):c.1185C>G (p.Ser395=)
NM_001134407.3(GRIN2A):c.1249G>T (p.Val417Phe) rs749504561
NM_001134407.3(GRIN2A):c.1271C>T (p.Pro424Leu) rs375260513
NM_001134407.3(GRIN2A):c.1288G>A (p.Val430Met)
NM_001134407.3(GRIN2A):c.1382T>C (p.Ile461Thr) rs1567337914
NM_001134407.3(GRIN2A):c.1462A>G (p.Lys488Glu)
NM_001134407.3(GRIN2A):c.1487T>C (p.Met496Thr)
NM_001134407.3(GRIN2A):c.1498-4C>T
NM_001134407.3(GRIN2A):c.1509del (p.Gln503fs)
NM_001134407.3(GRIN2A):c.1651G>A (p.Glu551Lys) rs1555494671
NM_001134407.3(GRIN2A):c.1739G>T (p.Ser580Ile) rs1567332765
NM_001134407.3(GRIN2A):c.1777+6G>C rs76549675
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1844A>G (p.Asn615Ser)
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1925T>G (p.Leu642Arg) rs2042448519
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2143del (p.Asp715fs) rs2042301516
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2391T>C (p.Thr797=)
NM_001134407.3(GRIN2A):c.2467A>G (p.Met823Val)
NM_001134407.3(GRIN2A):c.2473G>A (p.Ala825Thr)
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)
NM_001134407.3(GRIN2A):c.2580C>T (p.Leu860=) rs201007843
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del) rs766019656
NM_001134407.3(GRIN2A):c.2663C>G (p.Thr888Arg) rs149698593
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2771T>C (p.Phe924Ser) rs1177789326
NM_001134407.3(GRIN2A):c.2801T>C (p.Met934Thr) rs540019898
NM_001134407.3(GRIN2A):c.2842T>A (p.Ser948Thr)
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.2985G>C (p.Thr995=) rs781646325
NM_001134407.3(GRIN2A):c.3010T>C (p.Ser1004Pro)
NM_001134407.3(GRIN2A):c.3040T>C (p.Trp1014Arg)
NM_001134407.3(GRIN2A):c.3088C>G (p.Pro1030Ala)
NM_001134407.3(GRIN2A):c.3126G>C (p.Arg1042Ser)
NM_001134407.3(GRIN2A):c.3166A>G (p.Met1056Val)
NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met) rs777249842
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3215G>A (p.Arg1072Lys)
NM_001134407.3(GRIN2A):c.323C>T (p.Ala108Val)
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=) rs762110435
NM_001134407.3(GRIN2A):c.3362A>G (p.Asp1121Gly)
NM_001134407.3(GRIN2A):c.3365G>C (p.Gly1122Ala)
NM_001134407.3(GRIN2A):c.3432C>A (p.Asn1144Lys)
NM_001134407.3(GRIN2A):c.3493C>T (p.Leu1165=)
NM_001134407.3(GRIN2A):c.3504C>G (p.Asn1168Lys)
NM_001134407.3(GRIN2A):c.3568C>T (p.His1190Tyr)
NM_001134407.3(GRIN2A):c.3590G>A (p.Gly1197Asp)
NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=) rs532278751
NM_001134407.3(GRIN2A):c.3637C>T (p.His1213Tyr)
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr) rs367543134
NM_001134407.3(GRIN2A):c.3786C>T (p.Thr1262=)
NM_001134407.3(GRIN2A):c.3909C>G (p.Asp1303Glu) rs765744766
NM_001134407.3(GRIN2A):c.3915C>G (p.Ser1305Arg) rs199830697
NM_001134407.3(GRIN2A):c.4053C>A (p.Ser1351Arg)
NM_001134407.3(GRIN2A):c.4205G>C (p.Arg1402Pro) rs74935155
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) rs367543126
NM_001134407.3(GRIN2A):c.420G>T (p.Pro140=)
NM_001134407.3(GRIN2A):c.4220C>T (p.Ser1407Leu)
NM_001134407.3(GRIN2A):c.422C>A (p.Thr141Lys) rs78631453
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4250G>A (p.Arg1417Gln) rs1346618506
NM_001134407.3(GRIN2A):c.4354C>A (p.Arg1452Ser) rs568622613
NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu) rs748047572
NM_001134407.3(GRIN2A):c.522C>A (p.Thr174=) rs771962690
NM_001134407.3(GRIN2A):c.568A>G (p.Thr190Ala) rs886051634
NM_001134407.3(GRIN2A):c.670T>C (p.Ser224Pro)
NM_001134407.3(GRIN2A):c.746C>G (p.Thr249Ser)
NM_001134407.3(GRIN2A):c.750G>C (p.Gly250=)
NM_001134407.3(GRIN2A):c.75G>T (p.Ala25=) rs1567354736
NM_001134407.3(GRIN2A):c.851G>T (p.Trp284Leu)
NM_001134407.3(GRIN2A):c.890G>A (p.Gly297Asp) rs775591257
NM_001134407.3(GRIN2A):c.899C>T (p.Thr300Ile)
NM_001134407.3(GRIN2A):c.90T>C (p.Gly30=) rs1204355370
NM_001134407.3(GRIN2A):c.91C>A (p.Pro31Thr)
NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538

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