ClinVar Miner

List of variants in gene GRIN2B reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
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.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly) rs774592932
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg) rs1949419811
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
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.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp) rs771157135
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu) rs1555103986
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
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.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr) rs1948686092
NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
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.2684_2685del (p.His895fs)
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter) rs1555102536
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)

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.