ClinVar Miner

List of variants in gene GLDC reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser) rs182760732 0.00197
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000170.3(GLDC):c.222C>T (p.Asp74=) rs148373517 0.00096
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=) rs149694787 0.00021
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.1752T>C (p.Pro584=) rs150647379 0.00012
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.2673C>T (p.His891=) rs144939090 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00001
NM_000170.3(GLDC):c.1917G>A (p.Gly639=) rs776998782 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.861+10C>T rs565335444 0.00001
NM_000170.3(GLDC):c.1035T>A (p.Pro345=)
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe) rs1563852496
NM_000170.3(GLDC):c.1261+5G>C
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1893C>T (p.Ala631=) rs565751857
NM_000170.3(GLDC):c.1908A>G (p.Lys636=) rs552960907
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.2192T>G (p.Met731Arg)
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580

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