ClinVar Miner

List of variants in gene GLDC reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000170.2(GLDC):c.*5C>G rs764814250
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.1033C>A (p.Pro345Thr) rs373263202
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.2(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
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.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
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.1401+1G>A rs1211616091
NM_000170.2(GLDC):c.142G>T (p.Gly48Trp) rs1057515608
NM_000170.2(GLDC):c.1484_1489del6 rs778109389
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
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.1606C>T (p.Arg536Trp) rs1286882965
NM_000170.2(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
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.1664T>G (p.Leu555Arg) rs765384489
NM_000170.2(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
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.1786C>T (p.Arg596Ter) rs386833531
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.1850+1G>T rs774099283
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.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.2(GLDC):c.2124_2126dup (p.Asn709_Ile710insLys) rs1554643929
NM_000170.2(GLDC):c.2147T>A (p.Leu716His) rs145018304
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.2(GLDC):c.2305C>A (p.Pro769Thr) rs751114163
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.23G>A (p.Trp8Ter) rs1477860542
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.2481_2484del (p.Gln828fs) rs766762760
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
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.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.2(GLDC):c.2665+1G>C rs149070244
NM_000170.2(GLDC):c.2666-1G>A rs1429861000
NM_000170.2(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.2(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000170.2(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000170.2(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
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.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.2(GLDC):c.2963G>A (p.Arg988Gln) rs749512886
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.3040G>T (p.Glu1014Ter) rs1444245039
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.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.2(GLDC):c.639_641CAA[1] (p.Asn214del) rs1222749984
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.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.886C>T (p.Leu296Phe) rs200413149
NM_000170.2(GLDC):c.911C>T (p.Pro304Leu) rs1207147043

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