List of variants in gene FBN1 reported by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.185G>A (p.Arg62His)	rs145942328	0.00012
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)	rs764827921	0.00002
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)	rs200283837	0.00001
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)	rs1566912242
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	rs1163486953
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)	rs193922205
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp)	rs1566895247
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)	rs1566894230
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	rs794728319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)	rs1555394195
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)	rs1566889147
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)	rs765692335

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