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Gene: SLC26A1 & Disease: Calcium Oxalate Nephrolithiasis, 208 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
195038	SLC26A1	c.*948C>T	--	NM_022042.4 M	SNV	LB	5 +	4
	SLC26A1	c.*948C>T	--	NM_213613.4	SNV	LB	5 +	4
	SLC26A1	c.576+3243C>T	--	NM_134425.4	SNV	LB	5 +	4
242374	SLC26A1	c.554C>T	p.Thr185Met (p.T185M)	NM_022042.4 M	SNV	P	2 +	3
242375	SLC26A1	c.1073C>T	p.Ser358Leu (p.S358L)	NM_022042.4 M	SNV	P	2 +	3
242374	SLC26A1	c.554C>T	p.Thr185Met (p.T185M)	NM_134425.4	SNV	P	2 +	3
242374	SLC26A1	c.554C>T	p.Thr185Met (p.T185M)	NM_213613.4	SNV	P	2 +	3
242375	SLC26A1	c.1073C>T	p.Ser358Leu (p.S358L)	NM_213613.4	SNV	P	2 +	3
242375	SLC26A1	c.576+1262C>T	--	NM_134425.4	SNV	P	2 +	3
242376	SLC26A1	c.166G>A	p.Ala56Thr (p.A56T)	NM_022042.4 M	SNV	VUS	2 +	2
283426	SLC26A1	c.747G>A	p.Trp249Ter (p.W249X)	NM_022042.4 M	SNV	LB	2 +	2
242376	SLC26A1	c.166G>A	p.Ala56Thr (p.A56T)	NM_134425.4	SNV	VUS	2 +	2
242376	SLC26A1	c.166G>A	p.Ala56Thr (p.A56T)	NM_213613.4	SNV	VUS	2 +	2
283426	SLC26A1	c.747G>A	p.Trp249Ter (p.W249X)	NM_213613.4	SNV	LB	2 +	2
283426	SLC26A1	c.576+936G>A	--	NM_134425.4	SNV	LB	2 +	2
1801328	SLC26A1	c.824T>C	p.Leu275Pro (p.L275P)	NM_022042.4 M	SNV	P	3 +	1
	SLC26A1	c.824T>C	p.Leu275Pro (p.L275P)	NM_213613.4	SNV	P	3 +	1
	SLC26A1	c.576+1013T>C	--	NM_134425.4	SNV	P	3 +	1
1443863	SLC26A1	c.2063G>A	p.Arg688Gln (p.R688Q)	NM_022042.4 M	SNV	VUS	2 +	0
376863	SLC26A1	c.1115G>A	p.Arg372His (p.R372H)	NM_022042.4 M	SNV	LB	2 +	0

208 Results, 20 per Page

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