ClinVar Miner

List of variants studied for autosomal dominant cutis laxa by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.1946del (p.Gly649fs)	rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs)	rs886039351
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)	rs863225045
NM_006329.3(FBLN5):c.380-9061_873dup

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