ClinVar Miner

List of variants reported as likely benign for Non-ketotic hyperglycinemia by Illumina Laboratory Services, Illumina

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.-186del rs140030144 0.02402
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.*257G>A rs111326356 0.00972
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
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.1707+8G>A rs144666843 0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
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.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_000481.4(AMT):c.*130G>T rs143731179 0.00149
NM_000170.3(GLDC):c.*229C>G rs184498089 0.00135
NM_000481.4(AMT):c.*416C>T rs571207015 0.00114
NM_000170.3(GLDC):c.*236G>T rs537707294 0.00102
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00018
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929

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