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Gene: SERPING1 & Disease: C1 Inhibitor Deficiency, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3946	SERPING1	c.1397G>A	p.Arg466His (p.R466H)	NM_000062.3 M	SNV	P	3 +	11
3946	SERPING1	c.1397G>A	p.Arg466His (p.R466H)	NM_001032295.2	SNV	P	3 +	11
1379992	SERPING1	c.997G>A	p.Ala333Thr (p.A333T)	NM_000062.3 M	SNV	VUS	3 +	2
1379992	SERPING1	c.997G>A	p.Ala333Thr (p.A333T)	NM_001032295.2	SNV	VUS	3 +	2
305016	SERPING1	c.5C>T	p.Ala2Val (p.A2V)	NM_000062.3 M	SNV	LB	3 +	1
1675130	SERPING1	c.1450C>T	p.Gln484Ter (p.Q484X)	NM_000062.3 M	SNV	P	3 +	1
305016	SERPING1	c.5C>T	p.Ala2Val (p.A2V)	NM_001032295.2	SNV	LB	3 +	1
1675130	SERPING1	c.1450C>T	p.Gln484Ter (p.Q484X)	NM_001032295.2	SNV	P	3 +	1
1675129	SERPING1	c.1147A>G	p.Met383Val (p.M383V)	NM_000062.3 M	SNV	VUS	3 +	0
1675129	SERPING1	c.1147A>G	p.Met383Val (p.M383V)	NM_001032295.2	SNV	VUS	3 +	0

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