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Gene: FBN1 & Disease: AAT1, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16451	FBN1	c.3509G>A	p.Arg1170His (p.R1170H)	NM_000138.5 M	SNV	P	17 +	20
42355	FBN1	c.4270C>G	p.Pro1424Ala (p.P1424A)	NM_000138.5 M	SNV	LB	16 +	19
200171	FBN1	c.7039_7040del	p.Met2347fs (p.M2347fs)	NM_000138.5 M	Del	P	6 +	12
200171	FBN1	c.7039_7040delAT	--	NM_000138.5 M	Del	P	6 +	12
36076	FBN1	c.4467T>A	p.Asn1489Lys (p.N1489K)	NM_000138.5 M	SNV	P	5 +	7
42296	FBN1	c.185G>A	p.Arg62His (p.R62H)	NM_000138.5 M	SNV	LB	5 +	4
161235	FBN1	c.3797A>T	p.Tyr1266Phe (p.Y1266F)	NM_000138.5 M	SNV	LB	5 +	4
617870	FBN1	c.813C>G	p.Cys271Trp (p.C271W)	NM_000138.5 M	SNV	LP	4 +	2
617871	FBN1	c.6866G>T	p.Cys2289Phe (p.C2289F)	NM_000138.5 M	SNV	LP	4 +	2
439701	FBN1	c.7656C>A	p.Cys2552Ter (p.C2552X)	NM_000138.5 M	SNV	P	5 +	2
264197	FBN1	c.2093C>T	p.Pro698Leu (p.P698L)	NM_000138.5 M	SNV	LB	5 +	1
617875	FBN1	c.2207A>G	p.Asn736Ser (p.N736S)	NM_000138.5 M	SNV	LB	5 +	1
617874	FBN1	c.3428G>A	p.Gly1143Asp (p.G1143D)	NM_000138.5 M	SNV	LP	3 +	1
617872	FBN1	c.6596G>A	p.Gly2199Asp (p.G2199D)	NM_000138.5 M	SNV	VUS	2 +	1
617873	FBN1	c.8121C>A	p.Asp2707Glu (p.D2707E)	NM_000138.5 M	SNV	VUS	5 +	1

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