ClinVar Miner

List of variants in gene GLDC studied for Non-ketotic hyperglycinemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 353
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HGVS dbSNP
GLDC, 2607C-A
GLDC, 30-KB DEL
NC_000009.11:g.(?_6558539)_(6565449_?)del
NC_000009.11:g.(?_6565334)_(6565449_?)dup
NC_000009.11:g.(?_6594994)_(6620339_?)del
NC_000009.11:g.(?_6610172)_(6645519_?)del
NC_000009.11:g.(?_6620164)_(6645519_?)dup
NC_000009.11:g.(?_6644594)_(6645519_?)del
NC_000009.11:g.(?_6644604)_(6645509_?)del
NM_000170.2(GLDC):c.*115A>T rs148273307
NM_000170.2(GLDC):c.*188C>T rs577665662
NM_000170.2(GLDC):c.*235T>G rs749941145
NM_000170.2(GLDC):c.*257G>A rs111326356
NM_000170.2(GLDC):c.*410G>C rs35834773
NM_000170.2(GLDC):c.*473C>T rs1061407
NM_000170.2(GLDC):c.*505_*506delTT rs3215922
NM_000170.2(GLDC):c.*540C>T rs7848919
NM_000170.2(GLDC):c.*546C>T rs768890473
NM_000170.2(GLDC):c.*557C>G rs73639311
NM_000170.2(GLDC):c.*5C>G rs764814250
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.-168G>A rs891076552
NM_000170.2(GLDC):c.-173T>G rs1039584725
NM_000170.2(GLDC):c.-186delC rs140030144
NM_000170.2(GLDC):c.-21C>T rs1057515609
NM_000170.2(GLDC):c.1000T>C (p.Phe334Leu) rs149133229
NM_000170.2(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1010G>A (p.Arg337Gln) rs138129131
NM_000170.2(GLDC):c.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.2(GLDC):c.1058+2T>A
NM_000170.2(GLDC):c.106G>C (p.Asp36His)
NM_000170.2(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
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.110G>A (p.Ser37Asn) rs763471932
NM_000170.2(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.2(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.2(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1278G>A (p.Gly426=) rs1554647023
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.1319T>C (p.Ile440Thr)
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1337del (p.Val446fs)
NM_000170.2(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.2(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000170.2(GLDC):c.1381C>T (p.Arg461Trp) rs761957837
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1401+1G>A rs1211616091
NM_000170.2(GLDC):c.1402-1G>C rs386833525
NM_000170.2(GLDC):c.1424C>T (p.Thr475Ile) rs750883330
NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) rs1057515608
NM_000170.2(GLDC):c.1433A>C (p.Glu478Ala)
NM_000170.2(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
NM_000170.2(GLDC):c.1483-15G>C rs371777070
NM_000170.2(GLDC):c.1483-6C>T rs1442788186
NM_000170.2(GLDC):c.1483G>C (p.Glu495Gln) rs1554646734
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.1508A>C (p.Glu503Ala) rs201890453
NM_000170.2(GLDC):c.150G>A (p.Ser50=) rs768354829
NM_000170.2(GLDC):c.1517G>C (p.Arg506Thr) rs754119942
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1553C>A (p.Pro518Gln) rs761064507
NM_000170.2(GLDC):c.1553C>G (p.Pro518Arg)
NM_000170.2(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.2(GLDC):c.1570G>C (p.Val524Leu) rs751362463
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1580+5G>T rs764790596
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1581-5C>T rs184463452
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.1606C>T (p.Arg536Trp) rs1286882965
NM_000170.2(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1626A>G (p.Glu542=) rs779537709
NM_000170.2(GLDC):c.1629del (p.Asn543fs)
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
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.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr)
NM_000170.2(GLDC):c.1691G>T (p.Ser564Ile) rs121964974
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+5G>C
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529
NM_000170.2(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.2(GLDC):c.1742C>G (p.Pro581Arg) rs772871471
NM_000170.2(GLDC):c.1752T>C (p.Pro584=) rs150647379
NM_000170.2(GLDC):c.1762G>C (p.Ala588Pro)
NM_000170.2(GLDC):c.176G>A (p.Arg59Lys)
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.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.2(GLDC):c.181_183GAC[1] (p.Asp62del) rs1554652789
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+1delG rs1399754800
NM_000170.2(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) rs772068893
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
NM_000170.2(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.2(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1925C>T (p.Thr642Met)
NM_000170.2(GLDC):c.1926+1G>A rs386833534
NM_000170.2(GLDC):c.1926+3G>T rs1563839674
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1926G>A (p.Thr642=)
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr)
NM_000170.2(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.2(GLDC):c.1932C>T (p.Cys644=) rs111348076
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.2(GLDC):c.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.2(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr)
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2053-5C>G rs140877566
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.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2124_2126dup (p.Asn709_Ile710insLys) rs1554643929
NM_000170.2(GLDC):c.2126A>G (p.Asn709Ser) rs150943866
NM_000170.2(GLDC):c.2137G>A (p.Val713Met)
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2149A>G (p.Ile717Val) rs117460214
NM_000170.2(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.2(GLDC):c.2161G>A (p.Gly721Arg)
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.2203G>T (p.Val735Leu) rs143119940
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.222C>T (p.Asp74=) rs148373517
NM_000170.2(GLDC):c.2230G>A (p.Gly744Arg)
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2240T>A (p.Val747Asp) rs1563835004
NM_000170.2(GLDC):c.2244G>A (p.Ser748=) rs372693840
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.2278dup (p.His760fs) rs1563834980
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
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.2297G>T (p.Gly766Val) rs750384225
NM_000170.2(GLDC):c.2304G>A (p.Gly768=) rs533775952
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
NM_000170.2(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.2(GLDC):c.2310C>A (p.Ile770=) rs765661419
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.2316-6delA rs3215923
NM_000170.2(GLDC):c.2316-6dupA rs3215923
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.2332C>G (p.Pro778Ala) rs1476838990
NM_000170.2(GLDC):c.2333C>G (p.Pro778Arg)
NM_000170.2(GLDC):c.2333C>T (p.Pro778Leu)
NM_000170.2(GLDC):c.234G>C (p.Met78Ile)
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.2(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2409C>T (p.Ala803=) rs1554643608
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.2446G>A (p.Ala816Thr) rs775834004
NM_000170.2(GLDC):c.2455A>G (p.Lys819Glu)
NM_000170.2(GLDC):c.2457+8C>T rs147308839
NM_000170.2(GLDC):c.2458-1G>T rs1554643370
NM_000170.2(GLDC):c.2458-2A>G rs1259354298
NM_000170.2(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.2(GLDC):c.245T>C (p.Leu82Ser) rs386833559
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.2487C>T (p.Ala829=) rs141806715
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.2(GLDC):c.249G>A (p.Gly83=) rs12341698
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2518A>G (p.Met840Val) rs781693346
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.2537C>T (p.Thr846Ile) rs747336541
NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000170.2(GLDC):c.2545A>G (p.Arg849Gly) rs778000679
NM_000170.2(GLDC):c.255+1G>A rs386833563
NM_000170.2(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.2(GLDC):c.2570G>A (p.Gly857Asp)
NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.2(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.2(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.2(GLDC):c.2593T>A (p.Leu865Met)
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2612A>G (p.Lys871Arg)
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.2(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.2(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.2(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.2(GLDC):c.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2666-1G>A rs1429861000
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2684T>C (p.Met895Thr) rs769606225
NM_000170.2(GLDC):c.270G>C (p.Leu90Phe) rs747736821
NM_000170.2(GLDC):c.2714T>G (p.Val905Gly)
NM_000170.2(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.2798T>A (p.Ile933Asn) rs758029533
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2818C>T (p.Pro940Ser)
NM_000170.2(GLDC):c.2832G>A (p.Pro944=) rs764242927
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.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
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.2919+1G>C
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.2919C>T (p.Leu973=) rs113736090
NM_000170.2(GLDC):c.2926G>A (p.Val976Met)
NM_000170.2(GLDC):c.2936A>C (p.Glu979Ala) rs550514750
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000170.2(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.2(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.2(GLDC):c.2955G>A (p.Thr985=) rs142004524
NM_000170.2(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2963G>A (p.Arg988Gln) rs749512886
NM_000170.2(GLDC):c.2964G>A (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2964G>C (p.Arg988=) rs146045718
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104
NM_000170.2(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.2(GLDC):c.2983G>T (p.Asp995Tyr)
NM_000170.2(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.2(GLDC):c.2988G>C (p.Gln996His) rs138640017
NM_000170.2(GLDC):c.2991C>A (p.His997Gln)
NM_000170.2(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.2(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.2(GLDC):c.319A>G (p.Met107Val) rs138454333
NM_000170.2(GLDC):c.327C>T (p.Asp109=) rs1181706015
NM_000170.2(GLDC):c.329C>A (p.Pro110His)
NM_000170.2(GLDC):c.334+1G>C rs978795483
NM_000170.2(GLDC):c.334+1G>T 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.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.2(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.2(GLDC):c.422G>A (p.Cys141Tyr) rs1563864774
NM_000170.2(GLDC):c.438G>A (p.Thr146=) rs13289273
NM_000170.2(GLDC):c.439_441dup (p.Ile147dup) rs1157234920
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.470+11T>C rs142534180
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>A (p.Gln2Lys)
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.2(GLDC):c.501G>A (p.Glu167=) rs35374927
NM_000170.2(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.2(GLDC):c.52G>T (p.Gly18Cys) rs535143891
NM_000170.2(GLDC):c.538C>T (p.Gln180Ter)
NM_000170.2(GLDC):c.544A>G (p.Met182Val) rs541691467
NM_000170.2(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.2(GLDC):c.578A>G (p.Asn193Ser)
NM_000170.2(GLDC):c.589C>G (p.Leu197Val) rs1461615694
NM_000170.2(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.2(GLDC):c.619C>G (p.Leu207Val) rs142181803
NM_000170.2(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.2(GLDC):c.637C>A (p.His213Asn) rs1210682949
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.642C>T (p.Asn214=) rs775546889
NM_000170.2(GLDC):c.646A>G (p.Arg216Gly) rs140411475
NM_000170.2(GLDC):c.660C>T (p.Leu220=) rs2228095
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.678C>T (p.His226=) rs12006003
NM_000170.2(GLDC):c.698T>C (p.Val233Ala) rs140013612
NM_000170.2(GLDC):c.701A>G (p.Gln234Arg) rs776639131
NM_000170.2(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.2(GLDC):c.71G>A (p.Gly24Glu)
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu)
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000170.2(GLDC):c.800C>T (p.Pro267Leu) rs138484426
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.811G>A (p.Gly271Arg) rs1554648113
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.2(GLDC):c.861+1G>T rs386833590
NM_000170.2(GLDC):c.861+5G>C rs192663616
NM_000170.2(GLDC):c.862-10T>A rs1264036061
NM_000170.2(GLDC):c.871T>G (p.Cys291Gly) rs141014950
NM_000170.2(GLDC):c.886C>T (p.Leu296Phe) rs200413149
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.913C>A (p.Pro305Thr) rs370964168
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118
NM_000170.2(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.2(GLDC):c.985C>A (p.Pro329Thr) rs386833593

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