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Gene: SLC4A1 & Disease: Autosomal Dominant Distal Renal Tubular Acidosis, 173 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17753	SLC4A1	c.1199_1225del	p.Ala400_Ala408del	NM_000342.4 M	Del	P	10 +	18
17763	SLC4A1	c.1766G>A	p.Arg589His (p.R589H)	NM_000342.4 M	SNV	P	3 +	11
17764	SLC4A1	c.1765C>T	p.Arg589Cys (p.R589C)	NM_000342.4 M	SNV	P	10 +	11
17767	SLC4A1	c.2102G>A	p.Gly701Asp (p.G701D)	NM_000342.4 M	SNV	P	9 +	9
17752	SLC4A1	c.166A>G	p.Lys56Glu (p.K56E)	NM_000342.4 M	SNV	P	4 +	8
17771	SLC4A1	c.2573C>A	p.Ala858Asp (p.A858D)	NM_000342.4 M	SNV	P	10 +	7
854724	SLC4A1	c.733G>A	p.Val245Met (p.V245M)	NM_000342.4 M	SNV	B	4 +	6
17766	SLC4A1	c.1765C>A	p.Arg589Ser (p.R589S)	NM_000342.4 M	SNV	P	2 +	6
620131	SLC4A1	c.1030C>T	p.Arg344Ter (p.R344X)	NM_000342.4 M	SNV	P	9 +	5
1163105	SLC4A1	c.2188C>T	p.Arg730Cys (p.R730C)	NM_000342.4 M	SNV	P	2 +	4
17773	SLC4A1	c.1462G>A	p.Val488Met (p.V488M)	NM_000342.4 M	SNV	P	9 +	3
17783	SLC4A1	c.2603C>T	p.Pro868Leu (p.P868L)	NM_000342.4 M	SNV	P	5 +	3
1495044	SLC4A1	c.523C>A	p.Pro175Thr (p.P175T)	NM_000342.4 M	SNV	VUS	9 +	2
1499211	SLC4A1	c.877-3dup	--	NM_000342.4 M	Dup	VUS	9 +	2
1081446	SLC4A1	c.876+8A>G	--	NM_000342.4 M	SNV	LB	9 +	2
780428	SLC4A1	c.12G>A	p.Leu4= (p.L4=)	NM_000342.4 M	SNV	LB	9 +	2
1390841	SLC4A1	c.2185G>A	p.Val729Met (p.V729M)	NM_000342.4 M	SNV	VUS	9 +	2
811350	SLC4A1	c.2340G>A	p.Leu780= (p.L780=)	NM_000342.4 M	SNV	LB	9 +	2
1352118	SLC4A1	c.283G>C	p.Gly95Arg (p.G95R)	NM_000342.4 M	SNV	VUS	9 +	2
1044950	SLC4A1	c.1160G>A	p.Arg387Gln (p.R387Q)	NM_000342.4 M	SNV	VUS	9 +	2

173 Results, 20 per Page

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