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Gene: AMT & Disease: GCE1, 2178 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11979	AMT	c.959G>A	p.Arg320His (p.R320H)	NM_000481.4 M	SNV	P	3 +	11
	AMT	c.827G>A	p.Arg276His (p.R276H)	NM_001164710.2	SNV	P	3 +	11
	AMT	c.791G>A	p.Arg264His (p.R264H)	NM_001164711.2	SNV	P	3 +	11
	AMT	c.959G>A	p.Arg320His (p.R320H)	NM_001164712.2	SNV	P	3 +	11
11981	AMT	c.878-1G>A	--	NM_000481.4 M	SNV	P	3 +	8
	AMT	c.710-1G>A	--	NM_001164711.2	SNV	P	3 +	8
	AMT	c.746-1G>A	--	NM_001164710.2	SNV	P	3 +	8
	AMT	c.878-1G>A	--	NM_001164712.2	SNV	P	3 +	8
56233	AMT	c.471+2T>C	--	NM_000481.4 M	SNV	P	2 +	6
56239	AMT	c.887G>A	p.Arg296His (p.R296H)	NM_000481.4 M	SNV	P	2 +	6
556278	AMT	c.958C>T	p.Arg320Cys (p.R320C)	NM_000481.4 M	SNV	P	2 +	6
56233	AMT	c.303+2T>C	--	NM_001164711.2	SNV	P	2 +	6
	AMT	c.340-421T>C	--	NM_001164710.2	SNV	P	2 +	6
	AMT	c.471+2T>C	--	NM_001164712.2	SNV	P	2 +	6
56239	AMT	c.755G>A	p.Arg252His (p.R252H)	NM_001164710.2	SNV	P	2 +	6
	AMT	c.719G>A	p.Arg240His (p.R240H)	NM_001164711.2	SNV	P	2 +	6
	AMT	c.887G>A	p.Arg296His (p.R296H)	NM_001164712.2	SNV	P	2 +	6
556278	AMT	c.826C>T	p.Arg276Cys (p.R276C)	NM_001164710.2	SNV	P	2 +	6
	AMT	c.790C>T	p.Arg264Cys (p.R264C)	NM_001164711.2	SNV	P	2 +	6
	AMT	c.958C>T	p.Arg320Cys (p.R320C)	NM_001164712.2	SNV	P	2 +	6

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