List of variants in gene FBN1 reported by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)	rs774658482	0.00004
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)	rs369482365	0.00003
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)	rs1406315227	0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)	rs374520085	0.00001
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)	rs2043799037
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)	rs1555400373
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)	rs1597633163
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	rs397515775
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	rs1163486953
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)	rs397515806

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