ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic for human disease

Included ClinVar conditions (13261):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114 0.00001
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095 0.00001
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu) rs200269512 0.00001
GRCh37/hg19 12p13.1(chr12:13595477-13814290)x1
GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1
NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile) rs1950069464
NM_000834.5(GRIN2B):c.1068C>A (p.Tyr356Ter) rs1201643405
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu) rs2497684685
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys) rs1555112356
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter) rs747172511
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter) rs992479287
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr) rs397514555
NM_000834.5(GRIN2B):c.1376G>A (p.Gly459Glu) rs2497599845
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe) rs1949427787
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln) rs763436882
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu) rs1949425904
NM_000834.5(GRIN2B):c.1496G>T (p.Gly499Val) rs1949425904
NM_000834.5(GRIN2B):c.1500+1G>A rs2497599320
NM_000834.5(GRIN2B):c.1540A>G (p.Thr514Ala) rs1949421055
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys) rs1555112064
NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly) rs774592932
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) rs2497598118
NM_000834.5(GRIN2B):c.1573T>G (p.Phe525Val) rs1949420397
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala) rs2497597954
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys) rs2497597935
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg) rs1949419811
NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg) rs1949419811
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del) rs2497597872
NM_000834.5(GRIN2B):c.1646C>T (p.Ala549Val) rs2497597834
NM_000834.5(GRIN2B):c.1649T>C (p.Phe550Ser) rs1555112021
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) rs1949369220
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.1685T>G (p.Met562Arg) rs1949368766
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1821G>C (p.Trp607Cys) rs1057518700
NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys) rs1057518700
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1845C>G (p.Asn615Lys) rs1949321538
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.1848C>G (p.Asn616Lys) rs1949321461
NM_000834.5(GRIN2B):c.1852G>A (p.Val618Ile)
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1883C>G (p.Ser628Cys) rs1949320966
NM_000834.5(GRIN2B):c.1883C>T (p.Ser628Phe) rs1949320966
NM_000834.5(GRIN2B):c.1906G>C (p.Ala636Pro) rs1949320812
NM_000834.5(GRIN2B):c.1907C>T (p.Ala636Val) rs1555110818
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val) rs797044930
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1946A>C (p.Asn649Thr) rs879253945
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1963A>T (p.Ile655Phe) rs1949320223
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp) rs771157135
NM_000834.5(GRIN2B):c.1985A>C (p.Gln662Pro) rs1949319877
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2010+1G>C rs2497582852
NM_000834.5(GRIN2B):c.2011-2_2038dup rs1591612370
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met) rs2136415913
NM_000834.5(GRIN2B):c.2060C>G (p.Pro687Arg) rs1555103986
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu) rs1555103986
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000834.5(GRIN2B):c.2079A>T (p.Arg693Ser) rs1948713322
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys) rs2497485773
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2141T>A (p.Val714Glu)
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu) rs1591611001
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu) rs2497482397
NM_000834.5(GRIN2B):c.2201C>T (p.Ala734Val) rs876661064
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile) rs1555103646
NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr) rs1948686092
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.5(GRIN2B):c.2360-3_2377delinsTTTC
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser) rs1057518800
NM_000834.5(GRIN2B):c.2419G>A (p.Glu807Lys) rs1948652687
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>C (p.Met818Leu) rs876661076
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val) rs876661076
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys) rs879254016
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile) rs2136409777
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val) rs2497476072
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val) rs797044849
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val) rs2497476034
NM_000834.5(GRIN2B):c.2471T>A (p.Met824Lys)
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile) rs2136409732
NM_000834.5(GRIN2B):c.2473T>G (p.Leu825Val) rs1948651813
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.5(GRIN2B):c.2511_2512del (p.Ile837fs) rs2497475889
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2591del (p.Ile864fs) rs2497475506
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs) rs2497471442
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter) rs1555102536
NM_000834.5(GRIN2B):c.2823del (p.Phe941fs) rs2497470975
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs) rs2136405082
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3391del (p.Asp1131fs) rs2497468901
NM_000834.5(GRIN2B):c.3912C>G (p.Tyr1304Ter) rs1407009840
NM_000834.5(GRIN2B):c.4015_4016del (p.Met1339fs) rs1565453023
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_000834.5(GRIN2B):c.4386del (p.Arg1463fs)
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000834.5(GRIN2B):c.509C>T (p.Ser170Phe) rs2497778295
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val) rs760488868
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823

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.