ClinVar Miner

List of variants studied for autosomal dominant cutis laxa by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.739+14G>A	rs1390709680	0.00002
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	rs752669339	0.00001
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)	rs2097834101
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)	rs2097831271
NM_002860.4(ALDH18A1):c.89-6C>G	rs2097895286
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)	rs1889226797

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