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Gene: IFITM5 & Disease: OI, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
37143	IFITM5	c.-14C>T	--	NM_001025295.3 M	SNV	P	3 +	15
193132	IFITM5	c.120G>T	p.Ser40= (p.S40=)	NM_001025295.3 M	SNV	B	1 +	2
1539704	IFITM5	c.42G>A	p.Thr14= (p.T14=)	NM_001025295.3 M	SNV	LB	1 +	2
1563813	IFITM5	c.34G>T	p.Ala12Ser (p.A12S)	NM_001025295.3 M	SNV	LB	1 +	2
498868	IFITM5	c.120G>A	p.Ser40= (p.S40=)	NM_001025295.3 M	SNV	LB	1 +	2
513279	IFITM5	c.87G>A	p.Pro29= (p.P29=)	NM_001025295.3 M	SNV	LB	1 +	2
741824	IFITM5	c.384C>T	p.Asp128= (p.D128=)	NM_001025295.3 M	SNV	B	1 +	2
1702009	IFITM5	c.187-10CT[2]	--	NM_001025295.3 M	MS	LB	1 +	1
1702010	IFITM5	c.68C>T	p.Ala23Val (p.A23V)	NM_001025295.3 M	SNV	VUS	1 +	1
1273689	IFITM5	c.-3C>T	--	NM_001025295.3 M	SNV	B	1 +	1

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