List of variants in gene FBN2 reported as uncertain significance for Cardiovascular phenotype

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)	rs139668142	0.00012
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys)	rs753526426	0.00006
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)	rs771260299	0.00003
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)	rs762108847	0.00002
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys)	rs563228953	0.00001
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val)	rs759481427	0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)	rs886038798	0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)	rs772928933	0.00001
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe)	rs886038935
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)	rs143195229
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)	rs886038891
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser)	rs886038773
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro)	rs755917639
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)	rs886038814
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp)	rs565550310
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)	rs763870762
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val)	rs886038818

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