ClinVar Miner

List of variants reported as uncertain significance for Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met) rs762412163 0.00037
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) rs372599057 0.00017
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met) rs771770693 0.00006
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) rs370093464 0.00006
NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser) rs141497538 0.00006
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile) rs183474162 0.00006
NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln) rs369605197 0.00004
NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly) rs140812221 0.00004
NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His) rs143274116 0.00004
NM_001003841.3(SLC6A19):c.887+9G>A rs762018842 0.00004
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp) rs777046481 0.00003
NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln) rs750499474 0.00002
NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro) rs370393309 0.00002
NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr) rs144373119 0.00002
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu) rs766566496 0.00002
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 0.00001
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr) rs199795977 0.00001
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn) rs147646554
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) rs1286047743
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) rs905741990
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) rs201070872
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) rs901169831
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) rs375879452
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) rs190631924

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