ClinVar Miner

List of variants in gene GLDC reported by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
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.1000T>C (p.Phe334Leu) rs149133229
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.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1058+2T>A
NM_000170.2(GLDC):c.106G>C (p.Asp36His)
NM_000170.2(GLDC):c.110G>A (p.Ser37Asn) rs763471932
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.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1278G>A (p.Gly426=) rs1554647023
NM_000170.2(GLDC):c.1317G>T (p.Lys439Asn)
NM_000170.2(GLDC):c.1319T>C (p.Ile440Thr)
NM_000170.2(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1433A>C (p.Glu478Ala)
NM_000170.2(GLDC):c.1453T>C (p.Leu485=) rs760562478
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.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>G (p.Pro518Arg)
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.2(GLDC):c.1581-5C>T rs184463452
NM_000170.2(GLDC):c.1618A>C (p.Lys540Gln) rs140516872
NM_000170.2(GLDC):c.1629del (p.Asn543fs)
NM_000170.2(GLDC):c.1640C>G (p.Ser547Cys) rs1320151906
NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) rs751822565
NM_000170.2(GLDC):c.1665+7A>T rs759573888
NM_000170.2(GLDC):c.1679T>C (p.Met560Thr)
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1722A>C (p.Lys574Asn) rs1554646530
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.1815C>T (p.Leu605=) rs74461075
NM_000170.2(GLDC):c.1850+1delG 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.190G>T (p.Ala64Ser) rs141601131
NM_000170.2(GLDC):c.1925C>T (p.Thr642Met)
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.1927-9A>G rs41281773
NM_000170.2(GLDC):c.1931G>A (p.Cys644Tyr)
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.197_198delinsAA (p.Arg66Lys) rs1554652780
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr)
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
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.2161G>A (p.Gly721Arg)
NM_000170.2(GLDC):c.2182G>A (p.Gly728Arg)
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
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.2244G>A (p.Ser748=) rs372693840
NM_000170.2(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.2(GLDC):c.2283A>G (p.Gly761=) rs1554643744
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.2310C>A (p.Ile770=) rs765661419
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2316-6delA rs3215923
NM_000170.2(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
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.2409C>T (p.Ala803=) rs1554643608
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.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.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.2545A>G (p.Arg849Gly) rs778000679
NM_000170.2(GLDC):c.2570G>A (p.Gly857Asp)
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.2665+10T>C rs774684209
NM_000170.2(GLDC):c.2665+1G>C rs149070244
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.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2798T>A (p.Ile933Asn) 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.2852C>A (p.Ser951Tyr) rs147472391
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.2955G>A (p.Thr985=) rs142004524
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.2983G>T (p.Asp995Tyr)
NM_000170.2(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.2(GLDC):c.2991C>A (p.His997Gln)
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.40C>A (p.Arg14Ser) rs182760732
NM_000170.2(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.2(GLDC):c.439_441dup (p.Ile147dup) rs1157234920
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.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.578A>G (p.Asn193Ser)
NM_000170.2(GLDC):c.589C>G (p.Leu197Val) rs1461615694
NM_000170.2(GLDC):c.619C>G (p.Leu207Val) rs142181803
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.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.71G>A (p.Gly24Glu)
NM_000170.2(GLDC):c.790T>C (p.Phe264Leu)
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
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.913C>A (p.Pro305Thr) rs370964168
NM_000170.2(GLDC):c.936C>T (p.Ile312=) rs79057118

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