List of variants in gene FBN2 reported as likely pathogenic for not provided

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter)	rs1750792951	0.00001
NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3])	rs863223593
NM_001999.4(FBN2):c.1465+1G>A	rs2126978741
NM_001999.4(FBN2):c.3566A>C (p.His1189Pro)	rs863223566
NM_001999.4(FBN2):c.3725-2del	rs1554122858
NM_001999.4(FBN2):c.3847+1G>T	rs863223604
NM_001999.4(FBN2):c.4100-2A>C	rs1581222180
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr)	rs863223572
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)
NM_001999.4(FBN2):c.4550G>A (p.Cys1517Tyr)	rs1057521951
NM_001999.4(FBN2):c.4594+1del	rs2126854515
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)	rs863223574

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