ClinVar Miner

List of variants in gene GLDC reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.3(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.3(GLDC):c.1402-1G>C rs386833525
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1926+1G>A rs386833534
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.3(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.255+1G>A rs386833563
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2839-1G>C rs386833569
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.3(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.3(GLDC):c.861+1G>T rs386833590
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr) rs386833593

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.