ClinVar Miner

List of variants reported as likely benign for Hyperglycinuria

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020208.4(SLC6A20):c.*446G>A rs60986539 0.01053
NM_020208.4(SLC6A20):c.*146A>G rs151248695 0.00930
NM_020208.4(SLC6A20):c.*2647T>C rs115438130 0.00847
NM_020208.4(SLC6A20):c.1585A>G (p.Ile529Val) rs61731475 0.00712
NM_020208.4(SLC6A20):c.171G>A (p.Pro57=) rs143569697 0.00338
NM_020208.4(SLC6A20):c.1058C>T (p.Pro353Leu) rs145795590 0.00270
NM_020208.4(SLC6A20):c.147C>T (p.Ile49=) rs142086756 0.00252
NM_020208.4(SLC6A20):c.*1824G>A rs542094304 0.00245
NM_020208.4(SLC6A20):c.*1904G>A rs141143340 0.00213
NM_020208.4(SLC6A20):c.786C>T (p.Phe262=) rs144563792 0.00134
NM_020208.4(SLC6A20):c.*1629C>T rs139410525 0.00116
NM_020208.4(SLC6A20):c.*1345T>C rs531832972 0.00113
NM_020208.4(SLC6A20):c.*1422A>G rs570836605 0.00092
NM_020208.4(SLC6A20):c.1059G>A (p.Pro353=) rs149854452 0.00071
NM_020208.4(SLC6A20):c.1086G>A (p.Ser362=) rs139940581 0.00066
NM_020208.4(SLC6A20):c.*548A>G rs149175344 0.00065
NM_020208.4(SLC6A20):c.746T>C (p.Phe249Ser) rs147760034 0.00029
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=) rs371002443 0.00002
NM_020208.4(SLC6A20):c.*1506A>T rs539802611
NM_020208.4(SLC6A20):c.*1786_*1787del rs57468640
NM_020208.4(SLC6A20):c.*3436C>T rs569114783

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