ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3; de Barsy syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503

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