List of variants in gene combination FBN1, LOC113939944 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)	rs146726731	0.00021
NM_000138.5(FBN1):c.1147+7G>A	rs373156788	0.00005
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter)	rs1566918075
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)	rs727504361
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)	rs886039550
NM_000138.5(FBN1):c.1088del (p.Gly363fs)	rs1555400598
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	rs794728165
NM_000138.5(FBN1):c.1147+19A>G	rs369942195
NM_000138.5(FBN1):c.1147+4A>G	rs2043844451

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