ClinVar Miner

List of variants reported as pathogenic for autosomal dominant complex spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NC_000010.10:g.(?_97366519)_(97626140_?)del
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) rs145289559
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
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.467T>G (p.Leu156Ter)
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.684dup (p.Ala229fs)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670

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