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Gene: EXT1 & Disease: Hereditary Multiple Exostoses, 643 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2500	EXT1	c.1018C>T	p.Arg340Cys (p.R340C)	NM_000127.3 M	SNV	P	3 +	19
265129	EXT1	c.1019G>A	p.Arg340His (p.R340H)	NM_000127.3 M	SNV	P	3 +	10
583370	EXT1	c.1056+1G>A	--	NM_000127.3 M	SNV	P	3 +	9
448898	EXT1	c.1418-2A>G	--	NM_000127.3 M	SNV	P	3 +	7
864699	EXT1	c.1883+1G>A	--	NM_000127.3 M	SNV	P	3 +	7
961767	EXT1	c.1883+1G>T	--	NM_000127.3 M	SNV	P	3 +	7
279804	EXT1	c.1468dup	p.Leu490fs (p.L490fs)	NM_000127.3 M	Dup	P	4 +	7
279804	EXT1	c.1468dupC	--	NM_000127.3 M	Dup	P	4 +	7
456062	EXT1	c.1431dup	p.Ser478fs (p.S478fs)	NM_000127.3 M	Dup	P	4 +	7
843973	EXT1	c.1108G>T	p.Glu370Ter (p.E370X)	NM_000127.3 M	SNV	P	3 +	6
2495	EXT1	c.1019G>T	p.Arg340Leu (p.R340L)	NM_000127.3 M	SNV	P	3 +	6
1069505	EXT1	c.1723-2A>C	--	NM_000127.3 M	SNV	P	3 +	6
838369	EXT1	c.1722+2T>G	--	NM_000127.3 M	SNV	P	3 +	6
965420	EXT1	c.651_664delinsTTT	p.Lys218fs (p.K218fs)	NM_000127.3 M	Indel	P	3 +	6
265127	EXT1	c.962+1G>T	--	NM_000127.3 M	SNV	P	3 +	6
265131	EXT1	c.1469del	p.Leu490fs (p.L490fs)	NM_000127.3 M	Del	P	3 +	6
642160	EXT1	c.1417+1G>A	--	NM_000127.3 M	SNV	P	3 +	6
265339	EXT1	c.538_539del	p.Leu181fs (p.L181fs)	NM_000127.3 M	MS	P	4 +	6
640558	EXT1	c.1057-2A>G	--	NM_000127.3 M	SNV	P	3 +	6
958192	EXT1	c.1723-2A>T	--	NM_000127.3 M	SNV	P	3 +	6

643 Results, 20 per Page

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