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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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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.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.1888G>A (p.Gly630Arg)	rs1298382357	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.1003G>A (p.Asp335Asn)	rs147646554
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile)	rs1373139216
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.1463A>G (p.Tyr488Cys)	rs1554035332
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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