ClinVar Miner

List of variants studied for childhood epilepsy with centrotemporal spikes by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter) rs2141482042
NM_001134407.3(GRIN2A):c.1123-1G>T rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln) rs2141369514
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His) rs2042668320
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>C rs2141344569
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs) rs2141342590
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs) rs2141342580
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) rs2141342254
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr) rs1057523843
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_001134407.3(GRIN2A):c.1651+1del rs2141341804
NM_001134407.3(GRIN2A):c.1655C>A (p.Pro552Gln) rs397518450
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs) rs2141325598
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) rs2050235998
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter) rs775819322
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln) rs2141312803
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.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) rs1555492763
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser) rs796052545
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val) rs2141312286
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile) rs2141312277
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2007+1G>A rs2141312109
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp) rs2042303226
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.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val) rs2141294795
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs) rs2141294703
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly) rs1903135567
NM_001134407.3(GRIN2A):c.2251G>T (p.Gly751Trp)
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs) rs2141230698
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.2334_2338del (p.Leu779fs) rs2141230279
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg) rs1903126465
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp) rs1555488084
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter) rs1555483728
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter) rs1198247451
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs) rs2141151209
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp) rs760885908
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter) rs1555455776
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser) rs2141632382
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter) rs1555455726
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg) rs2141631426
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.