ClinVar Miner

List of variants reported as likely benign for Hyperglycinuria; Iminoglycinuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181776.3(SLC36A2):c.273G>A (p.Leu91=) rs35403441 0.00541
NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=) rs149847490 0.00308
NM_181776.3(SLC36A2):c.915C>T (p.Ile305=) rs138947074 0.00283
NM_181776.3(SLC36A2):c.882C>T (p.His294=) rs74403861 0.00146
NM_181776.3(SLC36A2):c.426C>T (p.His142=) rs79265984 0.00096
NM_181776.3(SLC36A2):c.1392C>T (p.Asp464=) rs144651323 0.00048
NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr) rs200123093 0.00029
NM_181776.3(SLC36A2):c.1181-5T>C rs190486100 0.00017
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=) rs780286885 0.00008
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=) rs371002443 0.00002

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