ClinVar Miner

List of variants in gene GLDC reported as uncertain significance by Counsyl

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr) rs751114163 0.00003
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del) rs1554652789
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys) rs1554643929
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2458A>G (p.Met820Val) rs781682244
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.3(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe) rs200413149

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