ClinVar Miner

List of variants in gene ALDH18A1 studied for Hereditary spastic paraplegia 9A

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76383
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66221
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.38617
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val) rs569086681 0.00001
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln) rs147348068
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1502T>C (p.Leu501Ser)
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.413G>A (p.Arg138Gln) rs863225045
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
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893

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