ClinVar Miner

List of variants in gene SLC6A19 reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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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.1606G>A (p.Val536Met) rs145250153 0.00032
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001003841.3(SLC6A19):c.1204G>A (p.Val402Ile) rs148800217 0.00020
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) rs372599057 0.00017
NM_001003841.3(SLC6A19):c.1177G>A (p.Val393Met) rs146143094 0.00016
NM_001003841.3(SLC6A19):c.1432G>A (p.Gly478Ser) rs201635809 0.00014
NM_001003841.3(SLC6A19):c.28G>A (p.Gly10Ser) rs138944821 0.00014
NM_001003841.3(SLC6A19):c.1016C>T (p.Thr339Met) rs140916314 0.00012
NM_001003841.3(SLC6A19):c.779C>T (p.Thr260Met) rs548464253 0.00011
NM_001003841.3(SLC6A19):c.941C>T (p.Ser314Leu) rs369804798 0.00010
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.995G>A (p.Arg332His) rs771260375 0.00006
NM_001003841.3(SLC6A19):c.1352C>T (p.Pro451Leu) rs1344159365 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.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.1538+18G>T rs761079636 0.00002
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu) rs766566496 0.00002
NM_001003841.3(SLC6A19):c.1402C>T (p.Leu468Phe) rs763765943 0.00001
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 0.00001
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg) rs1298382357 0.00001
NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln) rs201936518 0.00001
NM_001003841.3(SLC6A19):c.410T>C (p.Met137Thr) rs752055539 0.00001
NM_001003841.3(SLC6A19):c.619G>A (p.Val207Ile) rs770276029 0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) rs201212000 0.00001
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr) rs199795977 0.00001
NM_001003841.3(SLC6A19):c.*16G>A
NM_001003841.3(SLC6A19):c.1000GAC[1] (p.Asp335del)
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn) rs147646554
NM_001003841.3(SLC6A19):c.1017-5C>G
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile) rs1373139216
NM_001003841.3(SLC6A19):c.1039G>A (p.Gly347Arg)
NM_001003841.3(SLC6A19):c.1051C>T (p.Pro351Ser)
NM_001003841.3(SLC6A19):c.1054G>C (p.Glu352Gln)
NM_001003841.3(SLC6A19):c.1096C>T (p.Arg366Trp)
NM_001003841.3(SLC6A19):c.1105G>A (p.Ala369Thr)
NM_001003841.3(SLC6A19):c.1106C>A (p.Ala369Asp)
NM_001003841.3(SLC6A19):c.1118C>T (p.Ala373Val)
NM_001003841.3(SLC6A19):c.1164C>G (p.Phe388Leu)
NM_001003841.3(SLC6A19):c.1174-16T>A
NM_001003841.3(SLC6A19):c.1190G>A (p.Gly397Asp)
NM_001003841.3(SLC6A19):c.1190G>T (p.Gly397Val)
NM_001003841.3(SLC6A19):c.1191C>T (p.Gly397=)
NM_001003841.3(SLC6A19):c.1201A>T (p.Ile401Phe)
NM_001003841.3(SLC6A19):c.1223C>T (p.Thr408Ile)
NM_001003841.3(SLC6A19):c.124A>G (p.Met42Val)
NM_001003841.3(SLC6A19):c.1270C>T (p.Leu424Phe)
NM_001003841.3(SLC6A19):c.1273T>G (p.Phe425Val)
NM_001003841.3(SLC6A19):c.1319T>C (p.Val440Ala)
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) rs1286047743
NM_001003841.3(SLC6A19):c.1346T>A (p.Ile449Asn)
NM_001003841.3(SLC6A19):c.1406T>C (p.Ile469Thr)
NM_001003841.3(SLC6A19):c.1408G>A (p.Gly470Ser)
NM_001003841.3(SLC6A19):c.1424T>A (p.Leu475Gln)
NM_001003841.3(SLC6A19):c.1451T>A (p.Leu484Gln)
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) rs905741990
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys) rs1554035332
NM_001003841.3(SLC6A19):c.1472C>T (p.Ser491Phe)
NM_001003841.3(SLC6A19):c.1491C>T (p.Ile497=)
NM_001003841.3(SLC6A19):c.1500C>T (p.Cys500=)
NM_001003841.3(SLC6A19):c.1522G>C (p.Val508Leu)
NM_001003841.3(SLC6A19):c.1539G>A (p.Arg513=)
NM_001003841.3(SLC6A19):c.1539G>C (p.Arg513Ser)
NM_001003841.3(SLC6A19):c.1539G>T (p.Arg513Ser)
NM_001003841.3(SLC6A19):c.1553T>C (p.Ile518Thr)
NM_001003841.3(SLC6A19):c.1598C>T (p.Thr533Met)
NM_001003841.3(SLC6A19):c.1632C>G (p.Ile544Met)
NM_001003841.3(SLC6A19):c.1651G>C (p.Val551Leu)
NM_001003841.3(SLC6A19):c.1653G>A (p.Val551=)
NM_001003841.3(SLC6A19):c.1693C>G (p.Pro565Ala)
NM_001003841.3(SLC6A19):c.1693C>T (p.Pro565Ser)
NM_001003841.3(SLC6A19):c.1702-17T>G
NM_001003841.3(SLC6A19):c.1802C>T (p.Ala601Val)
NM_001003841.3(SLC6A19):c.1900T>C (p.Tyr634His)
NM_001003841.3(SLC6A19):c.206C>A (p.Ala69Asp)
NM_001003841.3(SLC6A19):c.218C>T (p.Pro73Leu)
NM_001003841.3(SLC6A19):c.24C>A (p.Asn8Lys)
NM_001003841.3(SLC6A19):c.271G>A (p.Ala91Thr)
NM_001003841.3(SLC6A19):c.283C>T (p.Arg95Trp)
NM_001003841.3(SLC6A19):c.307G>A (p.Val103Met)
NM_001003841.3(SLC6A19):c.344-12G>A
NM_001003841.3(SLC6A19):c.350C>G (p.Ala117Gly)
NM_001003841.3(SLC6A19):c.373G>A (p.Val125Met)
NM_001003841.3(SLC6A19):c.37G>A (p.Ala13Thr)
NM_001003841.3(SLC6A19):c.3G>T (p.Met1Ile)
NM_001003841.3(SLC6A19):c.454G>A (p.Asp152Asn)
NM_001003841.3(SLC6A19):c.47C>T (p.Pro16Leu)
NM_001003841.3(SLC6A19):c.481+15G>A
NM_001003841.3(SLC6A19):c.482-5C>A
NM_001003841.3(SLC6A19):c.482-6C>T
NM_001003841.3(SLC6A19):c.482G>T (p.Gly161Val)
NM_001003841.3(SLC6A19):c.496T>G (p.Cys166Gly)
NM_001003841.3(SLC6A19):c.509C>G (p.Ser170Cys)
NM_001003841.3(SLC6A19):c.523T>C (p.Phe175Leu)
NM_001003841.3(SLC6A19):c.570G>C (p.Ser190=) rs766491340
NM_001003841.3(SLC6A19):c.574T>C (p.Ser192Pro)
NM_001003841.3(SLC6A19):c.625T>A (p.Tyr209Asn)
NM_001003841.3(SLC6A19):c.626A>C (p.Tyr209Ser)
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) rs201070872
NM_001003841.3(SLC6A19):c.649G>A (p.Glu217Lys)
NM_001003841.3(SLC6A19):c.658G>A (p.Gly220Arg)
NM_001003841.3(SLC6A19):c.667G>A (p.Val223Met)
NM_001003841.3(SLC6A19):c.682A>T (p.Thr228Ser)
NM_001003841.3(SLC6A19):c.690C>G (p.Pro230=)
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) rs901169831
NM_001003841.3(SLC6A19):c.719G>A (p.Arg240Gln)
NM_001003841.3(SLC6A19):c.728C>G (p.Thr243Arg)
NM_001003841.3(SLC6A19):c.728C>T (p.Thr243Met) rs202220597
NM_001003841.3(SLC6A19):c.730C>A (p.Leu244Met)
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) rs375879452
NM_001003841.3(SLC6A19):c.773A>G (p.Asn258Ser)
NM_001003841.3(SLC6A19):c.794C>T (p.Pro265Leu)
NM_001003841.3(SLC6A19):c.814G>A (p.Gly272Ser)
NM_001003841.3(SLC6A19):c.888-16C>G
NM_001003841.3(SLC6A19):c.922A>G (p.Ile308Val)
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) rs190631924
NM_001003841.3(SLC6A19):c.95G>C (p.Arg32Pro)
NM_001003841.3(SLC6A19):c.962T>C (p.Val321Ala)
NM_001003841.3(SLC6A19):c.97C>A (p.Pro33Thr)
NM_001003841.3(SLC6A19):c.982C>T (p.Arg328Cys)
NM_001003841.3(SLC6A19):c.988A>G (p.Thr330Ala)
NM_001003841.3(SLC6A19):c.989_990inv (p.Thr330Met)

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