ClinVar Miner

List of variants studied for hereditary spastic paraplegia 4 by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+6T>G rs1553317050

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