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Gene: TMEM67 & Disease: Coloboma of Iris, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
506012	TMEM67	c.514C>T	p.Arg172Ter (p.R172X)	NM_153704.6 M	SNV	P	9 +	3
506012	TMEM67	c.271C>T	p.Arg91Ter (p.R91X)	NM_001142301.1	SNV	P	9 +	3
523562	TMEM67	c.2418_2423dup	p.805_806MN[3]	NM_153704.6 M	Dup	LP	1 +	0
523562	TMEM67	c.2175_2180dup	p.724_725MN[3]	NM_001142301.1	Dup	LP	1 +	0

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