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Gene: AMN & Disease: IGS1, 188 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
56751	AMN	c.208-2A>G	--	NM_030943.4 M	SNV	P	3 +	10
56750	AMN	c.208-1G>C	--	NM_030943.4 M	SNV	LP	3 +	7
56749	AMN	c.14del	p.Gly5fs (p.G5fs)	NM_030943.4 M	Del	P	3 +	4
567966	AMN	c.844-1G>C	--	NM_030943.4 M	SNV	LP	3 +	3
56759	AMN	c.742C>T	p.Gln248Ter (p.Q248X)	NM_030943.4 M	SNV	P	2 +	3
532205	AMN	c.760+1G>A	--	NM_030943.4 M	SNV	LP	3 +	3
56756	AMN	c.663G>A	p.Trp221Ter (p.W221X)	NM_030943.4 M	SNV	VUS	2 +	3
4770	AMN	c.122C>T	p.Thr41Ile (p.T41I)	NM_030943.4 M	SNV	P	3 +	3
1492690	AMN	c.296-3C>T	--	NM_030943.4 M	SNV	VUS	2 +	2
532199	AMN	c.400C>G	p.Arg134Gly (p.R134G)	NM_030943.4 M	SNV	VUS	3 +	2
940760	AMN	c.1349A>G	p.Glu450Gly (p.E450G)	NM_030943.4 M	SNV	VUS	3 +	2
1032915	AMN	c.1324G>A	p.Val442Ile (p.V442I)	NM_030943.4 M	SNV	VUS	2 +	2
1592906	AMN	c.1258-14C>G	--	NM_030943.4 M	SNV	LB	3 +	2
1599249	AMN	c.1257+20dup	--	NM_030943.4 M	Dup	LB	3 +	2
1468534	AMN	c.1257G>A	p.Leu419= (p.L419=)	NM_030943.4 M	SNV	VUS	2 +	2
1591129	AMN	c.1179G>A	p.Arg393= (p.R393=)	NM_030943.4 M	SNV	LB	3 +	2
1155570	AMN	c.1176G>A	p.Arg392= (p.R392=)	NM_030943.4 M	SNV	LB	3 +	2
1600049	AMN	c.1169+11C>G	--	NM_030943.4 M	SNV	LB	3 +	2
1086779	AMN	c.1152C>T	p.Arg384= (p.R384=)	NM_030943.4 M	SNV	LB	3 +	2
1400685	AMN	c.1115_1123dup	p.Ala372_Leu374dup	NM_030943.4 M	Dup	VUS	3 +	2

188 Results, 20 per Page

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