List of variants in gene FBN2 reported as pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NC_000005.10:g.(?_128328686)_(128330705_?)del
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)	rs863223599
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)	rs1581230766
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)	rs1750918931
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)	rs1206843725
NM_001999.4(FBN2):c.3472+2T>C	rs2126903614
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)	rs1554123065
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)	rs1750894751
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)	rs863223567
NM_001999.4(FBN2):c.3598+6T>G
NM_001999.4(FBN2):c.3725-15A>G	rs587776519
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)	rs1554122857
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)	rs1750812513
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)	rs1750811749
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)	rs1581223990
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)	rs1750792792
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)	rs794727560
NM_001999.4(FBN2):c.4222+5G>A	rs1554122550
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)	rs1060503510
NM_001999.4(FBN2):c.4346-2A>G	rs587776518
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
NM_001999.4(FBN2):c.4592_4594+3del	rs2126854512
NM_001999.4(FBN2):c.5917+5G>A	rs1561758622
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)	rs1749713036

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