ClinVar Miner

List of variants reported as benign for Non-ketotic hyperglycinemia by Invitae

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ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu) rs8052579 0.79247
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
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_004483.5(GCSH):c.159C>T (p.Phe53=) rs8177876 0.05863
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_004483.5(GCSH):c.252T>C (p.Tyr84=) rs8177907 0.03948
NM_004483.5(GCSH):c.261C>G (p.Leu87=) rs8177908 0.03948
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser) rs8177877 0.03699
NM_004483.5(GCSH):c.90C>G (p.Pro30=) rs8177847 0.03370
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_000170.3(GLDC):c.1482+19T>C rs79114789 0.02433
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
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_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
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.2457+8C>T rs147308839 0.00421
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_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_004483.5(GCSH):c.148+15C>T rs544589105 0.00355
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
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.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
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_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_000170.3(GLDC):c.222C>T (p.Asp74=) rs148373517 0.00096
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
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_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg) rs190430477 0.00028
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000170.3(GLDC):c.635+16A>G rs182471927 0.00012
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.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.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.636-12del
NM_000481.4(AMT):c.471+10del
NM_000481.4(AMT):c.471+10dup
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_004483.5(GCSH):c.293-16dup rs202181338

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