ClinVar Miner

List of variants in gene ALDH18A1 studied for autosomal recessive complex spastic paraplegia type 9B

Included ClinVar conditions (4):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
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 0.39029
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.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val) rs762154638 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) rs185313265
NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs) rs2097844381
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
NM_002860.4(ALDH18A1):c.1784A>G (p.Asp595Gly)
NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro) rs869320690
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=) rs2139530896
NM_002860.4(ALDH18A1):c.1931T>A (p.Ile644Asn)
NM_002860.4(ALDH18A1):c.2312T>C (p.Val771Ala)
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.86C>T (p.Ser29Phe)
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879

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