ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive complex spastic paraplegia type 9B by 3billion, Medical Genetics

Included ClinVar conditions (4):

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
Autosomal recessive complex spastic paraplegia type 9B
Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val)	rs762154638	0.00001
NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs)	rs2097844381

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