List of variants in gene FBLN5 reported as pathogenic by OMIM

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	rs61734479	0.00199
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00010
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)	rs121434302	0.00004
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu)	rs121434299	0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)	rs121434300	0.00002
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)	rs864309526
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	rs80338767
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)	rs121434303
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser)	rs121434301
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr)	rs28939072
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)	rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)	rs28939370
NM_006329.4(FBLN5):c.986A>T (p.Asp329Val)	rs1172268284
NM_006329.4(FBLN5):c.992G>A (p.Arg331His)	rs774735234

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