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Mutation Direct

Effortless mutation search and display tool

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Gene: TMEM67 & Disease: Cystic Kidney Disease, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1383	TMEM67	c.1843T>C	p.Cys615Arg (p.C615R)	NM_153704.6 M	SNV	P	18 +	11
1383	TMEM67	c.1600T>C	p.Cys534Arg (p.C534R)	NM_001142301.1	SNV	P	18 +	11
217725	TMEM67	c.1321C>T	p.Arg441Cys (p.R441C)	NM_153704.6 M	SNV	P	15 +	5
217725	TMEM67	c.1078C>T	p.Arg360Cys (p.R360C)	NM_001142301.1	SNV	P	15 +	5

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