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Gene: SLC6A19 & Disease: IG, 61 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2019	SLC6A19	c.517G>A	p.Asp173Asn (p.D173N)	NM_001003841.3 M	SNV	P	3 +	6
917714	SLC6A19	c.532C>T	p.Arg178Ter (p.R178X)	NM_001003841.3 M	SNV	P	3 +	5
449553	SLC6A19	c.1173+2T>G	--	NM_001003841.3 M	SNV	P	3 +	4
724582	SLC6A19	c.453C>T	p.Ser151= (p.S151=)	NM_001003841.3 M	SNV	LB	3 +	2
1348032	SLC6A19	c.697G>A	p.Val233Ile (p.V233I)	NM_001003841.3 M	SNV	VUS	3 +	1
2020	SLC6A19	c.718C>T	p.Arg240Ter (p.R240X)	NM_001003841.3 M	SNV	P	3 +	1
1476735	SLC6A19	c.688C>T	p.Pro230Ser (p.P230S)	NM_001003841.3 M	SNV	VUS	3 +	0
1482946	SLC6A19	c.683C>T	p.Thr228Met (p.T228M)	NM_001003841.3 M	SNV	VUS	3 +	0
1358021	SLC6A19	c.292C>T	p.Arg98Trp (p.R98W)	NM_001003841.3 M	SNV	VUS	3 +	0
1669404	SLC6A19	c.1431C>T	p.Ser477= (p.S477=)	NM_001003841.3 M	SNV	LB	3 +	0
1558817	SLC6A19	c.657C>T	p.Thr219= (p.T219=)	NM_001003841.3 M	SNV	LB	3 +	0
790831	SLC6A19	c.1302G>A	p.Gly434= (p.G434=)	NM_001003841.3 M	SNV	LB	3 +	0
1536313	SLC6A19	c.849C>T	p.Phe283= (p.F283=)	NM_001003841.3 M	SNV	LB	3 +	0
1634623	SLC6A19	c.1539-20G>C	--	NM_001003841.3 M	SNV	LB	3 +	0
713077	SLC6A19	c.555G>A	p.Thr185= (p.T185=)	NM_001003841.3 M	SNV	LB	3 +	0
1640835	SLC6A19	c.1554C>T	p.Ile518= (p.I518=)	NM_001003841.3 M	SNV	LB	3 +	0
1415571	SLC6A19	c.95G>A	p.Arg32Gln (p.R32Q)	NM_001003841.3 M	SNV	VUS	3 +	0
1474965	SLC6A19	c.125T>C	p.Met42Thr (p.M42T)	NM_001003841.3 M	SNV	VUS	3 +	0
1513911	SLC6A19	c.1244T>C	p.Leu415Pro (p.L415P)	NM_001003841.3 M	SNV	VUS	3 +	0
1599936	SLC6A19	c.343+11C>T	--	NM_001003841.3 M	SNV	LB	3 +	0

61 Results, 20 per Page

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