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Gene: MITF & Disease: Ear Malformation, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14276	MITF	c.961C>T	p.Arg321Ter (p.R321X)	NM_001354604.2 M	SNV	P	3 +	2
	MITF	c.640C>T	p.Arg214Ter (p.R214X)	NM_000248.4 MP	SNV	P	3 +	2
	MITF	c.787C>T	p.Arg263Ter (p.R263X)	NM_001184967.2	SNV	P	3 +	2
	MITF	c.958C>T	p.Arg320Ter (p.R320X)	NM_001354605.2	SNV	P	3 +	2
	MITF	c.940C>T	p.Arg314Ter (p.R314X)	NM_001354606.2	SNV	P	3 +	2
	MITF	c.892C>T	p.Arg298Ter (p.R298X)	NM_001354607.2	SNV	P	3 +	2
	MITF	c.787C>T	p.Arg263Ter (p.R263X)	NM_001354608.2	SNV	P	3 +	2
	MITF	c.940C>T	p.Arg314Ter (p.R314X)	NM_006722.3	SNV	P	3 +	2
	MITF	c.622C>T	p.Arg208Ter (p.R208X)	NM_198158.3	SNV	P	3 +	2
	MITF	c.943C>T	p.Arg315Ter (p.R315X)	NM_198159.3	SNV	P	3 +	2
	MITF	c.895C>T	p.Arg299Ter (p.R299X)	NM_198177.3	SNV	P	3 +	2
	MITF	c.454C>T	p.Arg152Ter (p.R152X)	NM_198178.3	SNV	P	3 +	2

共12个结果, 每页展示20条

1

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