ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Kids Neuroscience Centre, Sydney Children's Hospitals Network

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
GRCh37/hg19 2p22.3(chr2:32372287-32372327)x2
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867

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