ClinVar Miner

List of variants studied for ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1078+5A>G	rs2139591190

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