List of variants in gene FBLN5 reported as not provided for Cutis laxa, autosomal recessive, type 1A

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	rs80338765	0.00012
NG_008254.1:g.48570_71295dup22726
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)	rs1802492
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	rs80338767
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)	rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)	rs28939370

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