ClinVar Miner

List of variants in gene GLDC reported as benign for Glycine encephalopathy

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.*540C>T rs7848919 0.71051
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.1850+87T>A rs968197 0.52530
NM_000170.3(GLDC):c.2839-57A>G rs2282160 0.42304
NM_000170.3(GLDC):c.2315+80C>G rs12683164 0.27429
NM_000170.3(GLDC):c.1261+72G>A rs6477094 0.25439
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.22000
NM_000170.3(GLDC):c.1261+36A>G rs11789777 0.20837
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.1155+43C>T rs7040427 0.02526
NM_000170.3(GLDC):c.1482+19T>C rs79114789 0.02433
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02144
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00739
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.*410G>C rs35834773 0.00725
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.1261+19T>C rs192870343 0.00431
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00400
NM_000170.3(GLDC):c.2457+8C>T rs147308839 0.00395
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00320
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00282
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00242
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 0.00178
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00107
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00102
NM_000170.3(GLDC):c.222C>T (p.Asp74=) rs148373517 0.00096
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.2202+19C>T rs187370615 0.00041
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg) rs190430477 0.00027
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00021
NM_000170.3(GLDC):c.635+16A>G rs182471927 0.00014
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221 0.00005
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146 0.00004
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.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.2203-63C>G rs2274874
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.2316-6del rs3215923
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2569+69C>A rs34948145
NM_000170.3(GLDC):c.636-12del rs749156397

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