List of variants in gene FBN1 reported as uncertain significance by ClinGen FBN1 Variant Curation Expert Panel, ClinGen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	rs587782946	0.00003
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)	rs193922179	0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)	rs772574901	0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)	rs1439487763	0.00001
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)	rs745680336	0.00001
NM_000138.5(FBN1):c.6163+2dup	rs794728315	0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)	rs779749926	0.00001
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)	rs1303389437
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	rs1163486953
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)	rs1366894709
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)	rs1555398387
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)	rs1057518501
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)	rs1555395266
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)	rs2505397920

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