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Gene: SLC4A1 & Disease: Hereditary Cryohydrocytosis with Normal Stomatin, 53 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
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
17771	SLC4A1	c.2573C>A	p.Ala858Asp (p.A858D)	NM_000342.4 M	SNV	P	10 +	7
620131	SLC4A1	c.1030C>T	p.Arg344Ter (p.R344X)	NM_000342.4 M	SNV	P	9 +	5
218183	SLC4A1	c.2201A>G	p.His734Arg (p.H734R)	NM_000342.4 M	SNV	P	3 +	4
218184	SLC4A1	c.2060T>C	p.Leu687Pro (p.L687P)	NM_000342.4 M	SNV	P	3 +	4
218182	SLC4A1	c.2191T>C	p.Ser731Pro (p.S731P)	NM_000342.4 M	SNV	P	3 +	3
17773	SLC4A1	c.1462G>A	p.Val488Met (p.V488M)	NM_000342.4 M	SNV	P	9 +	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
715536	SLC4A1	c.798T>C	p.Phe266= (p.F266=)	NM_000342.4 M	SNV	LB	10 +	2
971626	SLC4A1	c.2726T>C	p.Met909Thr (p.M909T)	NM_000342.4 M	SNV	LP	9 +	2
1143663	SLC4A1	c.102G>A	p.Pro34= (p.P34=)	NM_000342.4 M	SNV	LB	9 +	2

53 Results, 20 per Page

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