ClinVar Miner

List of variants studied for autosomal dominant cutis laxa by Inherited Neuropathy Consortium Ii, University Of Miami

Included ClinVar conditions (14):

ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant
Cutis laxa, autosomal dominant 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome
Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2
Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3; de Barsy syndrome
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2; Charcot-Marie-Tooth disease, demyelinating, IIA 1H

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	rs80338765	0.00012
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)	rs377360782	0.00005
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
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)	rs2139960687

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