ClinVar Miner

List of variants in gene ALDH18A1 reported as pathogenic for autosomal dominant spastic paraplegia type 9

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) rs766264810
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser) rs2139621272
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670

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