ClinVar Miner

List of variants in gene GLDC reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.*540C>T rs7848919 0.70462
NM_000170.3(GLDC):c.*473C>T rs1061407 0.67774
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.660C>T (p.Leu220=) rs2228095 0.07130
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
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_000170.2(GLDC):c.*557C>G rs73639311 0.01818
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000170.3(GLDC):c.*257G>A rs111326356 0.00972
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.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_000170.3(GLDC):c.1707+8G>A rs144666843 0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000170.3(GLDC):c.*115A>T rs148273307 0.00276
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00261
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_000170.3(GLDC):c.*229C>G rs184498089 0.00135
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
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.*236G>T rs537707294 0.00102
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000170.3(GLDC):c.*188C>T rs577665662 0.00044
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000170.3(GLDC):c.*235T>G rs749941145 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000170.3(GLDC):c.-31C>A rs964863986 0.00024
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu) rs150698281 0.00016
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile) rs200413149 0.00005
NM_000170.3(GLDC):c.-21C>T rs1057515609 0.00004
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000170.3(GLDC):c.*345G>T rs1383579539 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.13G>C (p.Ala5Pro) rs1358259956 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met) rs141153261 0.00003
NM_000170.3(GLDC):c.2137G>A (p.Val713Met) rs912659426 0.00003
NM_000170.3(GLDC):c.2926G>A (p.Val976Met) rs150624881 0.00003
NM_000170.3(GLDC):c.*546C>T rs768890473 0.00002
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000170.3(GLDC):c.*496T>G rs999698910 0.00001
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2166A>G (p.Gly722=) rs1323178815 0.00001
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp) rs1455180063 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.701A>G (p.Gln234Arg) rs776639131 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000170.3(GLDC):c.*378G>T rs907978914
NM_000170.3(GLDC):c.*410G>A rs35834773
NM_000170.3(GLDC):c.*410G>C rs35834773
NM_000170.3(GLDC):c.*505_*506del rs3215922
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
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.1553C>A (p.Pro518Gln) rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1580+5G>T rs764790596
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met) rs1010614777
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn) rs1817555894
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2564C>T (p.Ala855Val) rs764251972
NM_000170.3(GLDC):c.2650A>G (p.Arg884Gly) rs1057515606
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2991C>G (p.His997Gln) rs757398632
NM_000170.3(GLDC):c.861+11C>G rs757254927

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