ClinVar Miner

List of variants in gene GRIN2A reported as pathogenic for Landau-Kleffner syndrome

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_001134407.3(GRIN2A):c.2289T>G (p.Ile763Met) rs1903130042 0.00001
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.9:g.(?_10031796)_(10032428_?)del
NC_000016.9:g.(?_10273835)_(10274268_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273845)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(10032428_?)del
NC_000016.9:g.(?_9857006)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(9862956_?)del
NC_000016.9:g.(?_9857006)_(9892341_?)del
NC_000016.9:g.(?_9857612)_(9865030_?)del
NC_000016.9:g.(?_9862688)_(9862966_?)del
NC_000016.9:g.(?_9892114)_(10032428_?)del
NC_000016.9:g.(?_9916101)_(9923529_?)dup
NC_000016.9:g.(?_9916111)_(9916291_?)del
NC_000016.9:g.(?_9934484)_(9934981_?)del
NC_000016.9:g.(?_9984833)_(9984967_?)del
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>C
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) rs2043685576
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) rs1555501093
NM_001134407.3(GRIN2A):c.1123-1G>A rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1133G>A (p.Trp378Ter)
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) rs1555496202
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs) rs2141369731
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) rs2042851617
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) rs2042850660
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) rs774228933
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>T rs2141344569
NM_001134407.3(GRIN2A):c.1497+2T>C rs2042665950
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1538C>T (p.Thr513Ile) rs1064796950
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) rs1555494686
NM_001134407.3(GRIN2A):c.154C>T (p.Arg52Ter)
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1651+1G>A
NM_001134407.3(GRIN2A):c.1651+2T>A rs2141341781
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg) rs2141325573
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) rs2141325493
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1747G>T (p.Gly583Ter)
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) rs1555492790
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) rs2141312814
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) rs2042447850
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.194del (p.Leu65fs)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2008-1G>A
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2168+1G>C rs2141294532
NM_001134407.3(GRIN2A):c.2168+1G>T
NM_001134407.3(GRIN2A):c.2169-1G>C rs2141231277
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) rs1903138230
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs) rs1596377481
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs) rs1596377439
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) rs2141136701
NM_001134407.3(GRIN2A):c.2860_2861del (p.Ser954fs)
NM_001134407.3(GRIN2A):c.2933_2934del (p.Tyr978fs)
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
NM_001134407.3(GRIN2A):c.3177_3195del (p.Asp1060fs)
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
NM_001134407.3(GRIN2A):c.3531dup (p.Leu1178fs)
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) rs2141130040
NM_001134407.3(GRIN2A):c.384del (p.His128fs)
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs) rs1900702353
NM_001134407.3(GRIN2A):c.3998C>G (p.Ser1333Ter)
NM_001134407.3(GRIN2A):c.4021dup (p.Ser1341fs)
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs) rs1900666405
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) rs1555455815
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) rs2050242587
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) rs1555455727
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) rs2141631751
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.806del (p.Pro269fs)
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) rs2141630590
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) rs1555455620
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) rs1555455618
NM_001134407.3(GRIN2A):c.85A>T (p.Lys29Ter)
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538

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