ClinVar Miner

List of variants in gene KLC2 studied for complex hereditary spastic paraplegia

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001318734.2(KLC2):c.942+27T>C rs525698 0.97319
NM_001318734.2(KLC2):c.1086C>T (p.Asp362=) rs1151539 0.40491
NM_001318734.2(KLC2):c.1444-24C>T rs474005 0.40488
NM_001318734.2(KLC2):c.1526G>A (p.Arg509Gln) rs749350069 0.00002
NM_001134775.1(KLC2):c.-451_-235del rs1554996989

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