ClinVar Miner

List of variants reported as not provided for autosomal dominant cutis laxa

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_000501.4(ELN):c.1358-199G>A	rs781963901	0.00034
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	rs782625771	0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)	rs200858692	0.00004
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)	rs768964431	0.00001
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NM_002860.4(ALDH18A1):c.1078+5A>G	rs2139591190

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