List of variants in gene combination FBN1, LOC113939944 reported as likely pathogenic for Marfan and Marfan-related disorder

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)	rs752010116	0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	rs1161109360	0.00001
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)	rs1555400612
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly)	rs1555400612
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)	rs2141336245
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)	rs1555400606
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)	rs1555400604
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)	rs1555400603
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)	rs1555400601
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)	rs1555400595
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)	rs1555400595
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)	rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)	rs1597583989
NM_000138.5(FBN1):c.1147+2T>A	rs2141335915
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del)	rs2043846857

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