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Gene: MKRN3 & Disease: CPPB2, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
438339	MKRN3	c.982C>T	p.Arg328Cys (p.R328C)	NM_005664.4 M	SNV	P	1 +	2
56904	MKRN3	c.482dup	p.Ala162fs (p.A162fs)	NM_005664.4 M	Dup	P	1 +	2
56902	MKRN3	c.1172dup	p.Tyr391Ter (p.Y391X)	NM_005664.4 M	Dup	P	1 +	1
56903	MKRN3	c.1095G>T	p.Arg365Ser (p.R365S)	NM_005664.4 M	SNV	P	1 +	1
56901	MKRN3	c.637del	p.Arg213fs (p.R213fs)	NM_005664.4 M	Del	P	1 +	1
2431610	MKRN3	c.482del	p.Pro161fs (p.P161fs)	NM_005664.4 M	Del	P	1 +	1
625144	MKRN3	c.326G>A	p.Cys109Tyr (p.C109Y)	NM_005664.4 M	SNV	LP	1 +	1
1030007	MKRN3	c.103T>G	p.Cys35Gly (p.C35G)	NM_005664.4 M	SNV	VUS	1 +	1
2433752	MKRN3	c.-81C>T	--	NM_005664.4 M	SNV	VUS	1 +	1

9 Results, 20 per Page

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