ClinVar Miner

List of variants studied for iminoglycinuria

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001003841.3(SLC6A19):c.1017-4G>A rs35329108 0.25295
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=) rs115133359 0.01389
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=) rs34910192 0.01216
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
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_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_181776.3(SLC36A2):c.882C>T (p.His294=) rs74403861 0.00146
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_181776.3(SLC36A2):c.426C>T (p.His142=) rs79265984 0.00096
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_181776.3(SLC36A2):c.1392C>T (p.Asp464=) rs144651323 0.00048
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_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr) rs200123093 0.00029
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) rs146474113 0.00026
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=) rs139760936 0.00021
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) rs141811843 0.00019
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_181776.3(SLC36A2):c.1181-5T>C rs190486100 0.00017
NM_001003841.3(SLC6A19):c.774+10C>T rs372657226 0.00014
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) rs371272274 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_020208.4(SLC6A20):c.1A>G (p.Met1Val) rs149885788 0.00009
NM_020208.4(SLC6A20):c.354+2T>A rs531515127 0.00008
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=) rs780286885 0.00008
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.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_020208.4(SLC6A20):c.262+4C>T rs777914805 0.00006
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) rs149505473 0.00006
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His) rs376448611 0.00005
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_020208.4(SLC6A20):c.1051A>C (p.Met351Leu) rs147777980 0.00004
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr) rs565896481 0.00004
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) rs776558771 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_020208.4(SLC6A20):c.1098+2T>C rs1275324148 0.00003
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=) rs779053318 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_020208.4(SLC6A20):c.1092A>T (p.Leu364=) rs371002443 0.00002
NM_181776.3(SLC36A2):c.164+1G>A rs371203963 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_020208.4(SLC6A20):c.512C>T (p.Ala171Val) rs781203780 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.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
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg) rs1553659698
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) rs145010504
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) rs375971612
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) rs763259500

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