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Gene: WHRN & Disease: Rare Genetic Deafness, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
45645	WHRN	c.1267C>T	p.Arg423Ter (p.R423X)	NM_015404.4 M	SNV	P	1 +	1
45679	WHRN	c.643del	p.Val215fs (p.V215fs)	NM_015404.4 M	Del	P	1 +	1
45645	WHRN	c.118C>T	p.Arg40Ter (p.R40X)	NM_001083885.3	SNV	P	1 +	1
	WHRN	c.1267C>T	p.Arg423Ter (p.R423X)	NM_001173425.2	SNV	P	1 +	1
	WHRN	c.214C>T	p.Arg72Ter (p.R72X)	NM_001346890.1	SNV	P	1 +	1
45679	WHRN	c.-507del	--	NM_001083885.3	Del	P	1 +	1
45679	WHRN	c.643del	p.Val215fs (p.V215fs)	NM_001173425.2	Del	P	1 +	1

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