List of variants in gene FBLN5 studied 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
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	rs2430347	0.76291
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	rs80338765	0.00012
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00010
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	rs372650987	0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)	rs759508064	0.00001
NG_008254.1:g.48570_71295dup22726
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)	rs1802492
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)	rs746506432
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	rs80338767
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	rs1595286986
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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