ClinVar Miner

List of variants in gene GRIN2D reported as uncertain significance for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_000836.4(GRIN2D):c.2749A>G (p.Ser917Gly) rs1273701038 0.00004
NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg) rs1365441040 0.00004
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn) rs775962298 0.00003
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser) rs141530315 0.00001
NM_000836.4(GRIN2D):c.3127C>T (p.Pro1043Ser) rs1326711404 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala) rs757989014 0.00001
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala) rs1971333907 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)
NM_000836.4(GRIN2D):c.1114C>T (p.Arg372Trp)
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000836.4(GRIN2D):c.2048A>G (p.Gln683Arg)
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
NM_000836.4(GRIN2D):c.2957G>T (p.Gly986Val)
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3]) rs749701862
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu) rs2147477588
NM_000836.4(GRIN2D):c.3581A>C (p.His1194Pro)
NM_000836.4(GRIN2D):c.3797C>A (p.Ala1266Glu) rs1971340970
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
NM_000836.4(GRIN2D):c.3854_3855del (p.Arg1285fs)
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
NM_000836.4(GRIN2D):c.3910G>T (p.Gly1304Trp)
NM_000836.4(GRIN2D):c.3923C>G (p.Pro1308Arg)
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp) rs2147478270
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu) rs544435291
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup) rs919633142
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)
NM_000836.4(GRIN2D):c.938G>A (p.Arg313Gln) rs773027827

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