ClinVar Miner

List of variants in gene GLDC reported as likely pathogenic for Non-ketotic hyperglycinemia

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Gene type:
ClinVar version:
Total variants: 123
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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.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.2(GLDC):c.1100C>T (p.Thr367Ile) rs1183976692
NM_000170.2(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.2(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.2(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.2(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
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.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1317G>T (p.Lys439Asn)
NM_000170.2(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.2(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1401+1G>A rs1211616091
NM_000170.2(GLDC):c.1402-1G>C rs386833525
NM_000170.2(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
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.1642C>G (p.Leu548Val) rs1554646653
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg) rs772871471
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.1850+1G>T rs774099283
NM_000170.2(GLDC):c.1850+1del rs1399754800
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.2(GLDC):c.1926+1G>A rs386833534
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
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.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.2(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
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>A (p.Gly728Arg)
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.2216G>A (p.Arg739His) rs121964980
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>A (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.2315+2T>A rs1554643738
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2317A>T (p.Lys773Ter) rs373618804
NM_000170.2(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
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.23G>A (p.Trp8Ter) rs1477860542
NM_000170.2(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.2(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.2(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.2(GLDC):c.2455A>G (p.Lys819Glu)
NM_000170.2(GLDC):c.2458-1G>T rs1554643370
NM_000170.2(GLDC):c.2458-2A>G rs1259354298
NM_000170.2(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.2(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
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.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.2(GLDC):c.255+1G>A rs386833563
NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
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.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2666-1G>A rs1429861000
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
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.2888dup (p.Tyr964fs) rs1554641737
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.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.334+1G>C rs978795483
NM_000170.2(GLDC):c.335-1G>C rs1554649675
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.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
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.911C>T (p.Pro304Leu) rs1207147043
NM_000170.2(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.2(GLDC):c.985C>A (p.Pro329Thr) rs386833593

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