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Mutation Direct

Effortless mutation search and display tool

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Gene: TMEM216 & Disease: MKS1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
167734	TMEM216	c.432-11_432-10insA	--	NM_001173990.3 M	Ins	B	2 +	0
305077	TMEM216	c.230-9G>A	--	NM_001173990.3 M	SNV	VUS	2 +	0
167734	TMEM216	c.249-2_249-1insA	--	NM_016499.6	Ins	B	2 +	0
	TMEM216	c.249-11_249-10insA	--	NM_001330285.2	Ins	B	2 +	0
	TMEM216	c.432-2_432-1insA	--	NM_001173991.3	Ins	B	2 +	0
305077	TMEM216	c.47-9G>A	--	NM_016499.6	SNV	VUS	2 +	0
	TMEM216	c.47-9G>A	--	NM_001330285.2	SNV	VUS	2 +	0
	TMEM216	c.230-9G>A	--	NM_001173991.3	SNV	VUS	2 +	0

8 Results, 20 per Page

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