ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_000170.2(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.2(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.2(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1402-1G>C rs386833525
NM_000170.2(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.2(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.2(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.2(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.2(GLDC):c.1926+1G>A rs386833534
NM_000170.2(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.2(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.2(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.2(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.2(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.2(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2196T>A (p.Asn732Lys) rs386833544
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.2(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.2(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2324A>G (p.His775Arg) rs386833555
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.2(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.2(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.255+1G>A rs386833563
NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.2(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.2(GLDC):c.2838+5G>A rs386833568
NM_000170.2(GLDC):c.2839-1G>C rs386833569
NM_000170.2(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.2(GLDC):c.2869T>C (p.Ser957Pro) rs386833571
NM_000170.2(GLDC):c.2891dup (p.Tyr964Ter) rs386833572
NM_000170.2(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.2(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.2(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.2(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.2(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.2(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.2(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.2(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.2(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.861+1G>T rs386833590
NM_000170.2(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.2(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.2(GLDC):c.985C>A (p.Pro329Thr) rs386833593
NM_000481.3(AMT):c.259-1G>C rs386833681
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_004483.4(GCSH):c.425-1G>T rs386833859
NM_032316.3(NICN1):c.*2328C>T rs386833677

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