ClinVar Miner

List of variants reported as benign for Hyperglycinuria by Illumina Laboratory Services, Illumina

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020208.4(SLC6A20):c.*2685T>C rs2742388 0.96477
NM_020208.4(SLC6A20):c.*599G>A rs2251347 0.96370
NM_020208.4(SLC6A20):c.417T>C (p.Cys139=) rs758386 0.96062
NM_020208.4(SLC6A20):c.*3519G>A rs2251109 0.34963
NM_020208.4(SLC6A20):c.1463+14G>A rs2191027 0.21012
NM_020208.4(SLC6A20):c.*871C>G rs2531750 0.16180
NM_020208.4(SLC6A20):c.26C>G (p.Ala9Gly) rs2271615 0.10332
NM_020208.4(SLC6A20):c.*537T>C rs73060335 0.08622
NM_020208.4(SLC6A20):c.-102C>A rs2271616 0.08176
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_020208.4(SLC6A20):c.*2479A>G rs17078308 0.06456
NM_020208.4(SLC6A20):c.282C>G (p.Val94=) rs2742399 0.05932
NM_020208.4(SLC6A20):c.507G>A (p.Glu169=) rs13314717 0.03767
NM_020208.4(SLC6A20):c.*2244G>A rs17213127 0.03271
NM_020208.4(SLC6A20):c.693+4C>T rs2276858 0.03271
NM_020208.4(SLC6A20):c.*1186T>C rs9811206 0.02859
NM_020208.4(SLC6A20):c.858C>T (p.Thr286=) rs34458611 0.02838
NM_020208.4(SLC6A20):c.*3118A>G rs116082988 0.01936
NM_020208.4(SLC6A20):c.*1192T>C rs116590098 0.01927
NM_020208.4(SLC6A20):c.*1328T>C rs144151884 0.01425

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