List of variants in gene FBLN5 reported as pathogenic for age-related macular degeneration

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
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_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	rs1595286986
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

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