ClinVar Miner

List of variants reported as benign for Hyperglycinuria

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Total variants: 27
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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_181776.3(SLC36A2):c.1383G>A (p.Gln461=) rs369907 0.57211
NM_181776.3(SLC36A2):c.1290G>A (p.Thr430=) rs431240 0.57195
NM_020208.4(SLC6A20):c.263-32A>G rs2252547 0.55677
NM_181776.3(SLC36A2):c.187C>T (p.Leu63=) rs192192 0.49866
NM_001003841.3(SLC6A19):c.663+48C>T rs13180809 0.38844
NM_020208.4(SLC6A20):c.*3519G>A rs2251109 0.34963
NM_001003841.3(SLC6A19):c.1017-4G>A rs35329108 0.25295
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
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869

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