List of variants in gene FBN1 reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)	rs1597579923
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)	rs1555399954
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)	rs2141305039
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)	rs1597569265
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)	rs1597564359
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)	rs387906626
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)	rs113080385
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)	rs1566922396

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