List of variants in gene combination FBN1, LOC113939944 reported as pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)	rs1161109360	0.00001
NC_000015.10:g.(?_48520639)_(48520837_?)del
NM_000138.5(FBN1):c.1003_1004del (p.Tyr335fs)	rs2141336256
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)	rs1555400612
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)	rs1566918075
NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter)	rs1057520656
NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs)	rs1566918060
NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter)	rs1597584082
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)	rs397515753
NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs)	rs2141336143
NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter)	rs2043846274
NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer)	rs2141336085
NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)
NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe)	rs1555400603
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	rs794728165
NM_000138.5(FBN1):c.1090del (p.Arg364fs)	rs2043845786
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)	rs1555400595
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
NM_000138.5(FBN1):c.1134del (p.Ile379fs)	rs1060501038
NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)	rs1566917979
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)	rs794728325

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