ClinVar Miner

List of variants studied for Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=) rs115133359 0.01389
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=) rs115871703 0.00268
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=) rs149830504 0.00197
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001003841.3(SLC6A19):c.775-4G>A rs144753758 0.00158
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=) rs139103369 0.00073
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=) rs140343487 0.00073
NM_001003841.3(SLC6A19):c.343+11C>T rs146085736 0.00053
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met) rs138390777 0.00052
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met) rs762412163 0.00037
NM_001003841.3(SLC6A19):c.481+12C>G rs370624507 0.00034
NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=) rs141911612 0.00034
NM_001003841.3(SLC6A19):c.887+8C>T rs375506845 0.00034
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00031
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=) rs139760936 0.00021
NM_001003841.3(SLC6A19):c.1539-20G>C rs113981520 0.00017
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) rs372599057 0.00017
NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=) rs148328575 0.00017
NM_001003841.3(SLC6A19):c.774+10C>T rs372657226 0.00014
NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=) rs201416473 0.00011
NM_001003841.3(SLC6A19):c.195C>T (p.His65=) rs143165913 0.00010
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=) rs544896068 0.00006
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met) rs771770693 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.1284G>C (p.Gly428=) rs750242948 0.00004
NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=) rs748088574 0.00004
NM_001003841.3(SLC6A19):c.1701+18C>T rs112626901 0.00004
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.718C>T (p.Arg240Ter) rs121434347 0.00004
NM_001003841.3(SLC6A19):c.887+9G>A rs762018842 0.00004
NM_001003841.3(SLC6A19):c.1173+20C>T rs982302856 0.00003
NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=) rs143414604 0.00003
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp) rs777046481 0.00003
NM_001003841.3(SLC6A19):c.774+1G>A rs554777392 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.1485C>T (p.Leu495=) rs572012976 0.00001
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=) rs1319482740 0.00001
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=) rs756989097 0.00001
NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=) rs764090881 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.1173+2T>G rs142979576
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) rs1286047743
NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=) rs755478742
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) rs905741990
NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=) rs112479136
NM_001003841.3(SLC6A19):c.202+12G>A rs369314798
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) rs201070872
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) rs375879452
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) rs190631924

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