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Gene: SERPINF1 & Disease: OI3, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
684741	SERPINF1	c.621_623del	p.Leu208Del (p.L208del)	NM_002615.7 M	Del	LP	1 +	1
684742	SERPINF1	c.742_747del	p.Lys248_Ala249del	NM_002615.7 M	Del	VUS	1 +	1
684743	SERPINF1	c.868GAG[1]	p.Glu291Del (p.E291del)	NM_002615.7 M	MS	VUS	1 +	1
684741	SERPINF1	c.621_623del	p.Leu208Del (p.L208del)	NM_001329903.2	Del	LP	1 +	1
	SERPINF1	c.60_62del	p.Leu21Del (p.L21del)	NM_001329904.2	Del	LP	1 +	1
	SERPINF1	c.60_62del	p.Leu21Del (p.L21del)	NM_001329905.2	Del	LP	1 +	1
684742	SERPINF1	c.742_747del	p.Lys248_Ala249del	NM_001329903.2	Del	VUS	1 +	1
	SERPINF1	c.181_186del	p.Lys61_Ala62del	NM_001329904.2	Del	VUS	1 +	1
	SERPINF1	c.181_186del	p.Lys61_Ala62del	NM_001329905.2	Del	VUS	1 +	1
684743	SERPINF1	c.868GAG[1]	p.Glu291Del (p.E291del)	NM_001329903.2	MS	VUS	1 +	1
	SERPINF1	c.307GAG[1]	p.Glu104Del (p.E104del)	NM_001329904.2	MS	VUS	1 +	1
	SERPINF1	c.307GAG[1]	p.Glu104Del (p.E104del)	NM_001329905.2	MS	VUS	1 +	1

12 Results, 20 per Page

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