ClinVar Miner

List of variants studied for SPAST-related motor disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser) rs1553315350
NM_014946.4(SPAST):c.1663G>C (p.Asp555His)
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter) rs1553394608

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