ClinVar Miner

List of variants in gene ALDH18A1 reported as uncertain significance for autosomal dominant complex spastic paraplegia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
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.2140G>A (p.Val714Ile) rs756291410 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.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256

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