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Gene: SLCO1B3 & Disease: HBLRR, 257 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30488	SLCO1B3	c.1747+1G>A	--	NM_019844.4 M	SNV	P	1 +	3
30488	SLCO1B3	c.1663+1G>A	--	NM_001349920.2	SNV	P	1 +	3
618375	SLCO1B3	c.484T>G	p.Cys162Gly (p.C162G)	NM_019844.4 M	SNV	LB	1 +	2
618375	SLCO1B3	c.400T>G	p.Cys134Gly (p.C134G)	NM_001349920.2	SNV	LB	1 +	2
2436096	SLCO1B3	c.1364C>G	p.Pro455Arg (p.P455R)	NM_019844.4 M	SNV	VUS	1 +	1
2436097	SLCO1B3	c.170_174del	p.Arg57fs (p.R57fs)	NM_019844.4 M	Del	VUS	1 +	1
2436098	SLCO1B3	c.1147A>G	p.Ile383Val (p.I383V)	NM_019844.4 M	SNV	VUS	1 +	1
2436099	SLCO1B3	c.2020T>A	p.Leu674Ile (p.L674I)	NM_019844.4 M	SNV	VUS	1 +	1
2436100	SLCO1B3	c.1291G>A	p.Glu431Lys (p.E431K)	NM_019844.4 M	SNV	VUS	1 +	1
2436101	SLCO1B3	c.67C>T	p.Arg23Cys (p.R23C)	NM_019844.4 M	SNV	VUS	1 +	1
2436102	SLCO1B3	c.956C>G	p.Thr319Ser (p.T319S)	NM_019844.4 M	SNV	VUS	1 +	1
2436104	SLCO1B3	c.1241C>A	p.Thr414Asn (p.T414N)	NM_019844.4 M	SNV	VUS	1 +	1
2436105	SLCO1B3	c.1363C>G	p.Pro455Ala (p.P455A)	NM_019844.4 M	SNV	VUS	1 +	1
2436106	SLCO1B3	c.446_448del	p.Ser149Del (p.S149del)	NM_019844.4 M	Del	VUS	1 +	1
2436107	SLCO1B3	c.1685T>C	p.Ile562Thr (p.I562T)	NM_019844.4 M	SNV	VUS	1 +	1
2436108	SLCO1B3	c.1205T>C	p.Leu402Ser (p.L402S)	NM_019844.4 M	SNV	VUS	1 +	1
2436109	SLCO1B3	c.1274A>G	p.Tyr425Cys (p.Y425C)	NM_019844.4 M	SNV	VUS	1 +	1
883729	SLCO1B3	c.434A>G	p.Asn145Ser (p.N145S)	NM_019844.4 M	SNV	B	1 +	1
376892	SLCO1B3	c.11A>G	p.His4Arg (p.H4R)	NM_019844.4 M	SNV	LB	1 +	1
261183	SLCO1B3	c.1557A>G	p.Ala519= (p.A519=)	NM_019844.4 M	SNV	B	1 +	1

257 Results, 20 per Page

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