ClinVar Miner

List of variants reported as pathogenic for hereditary spastic paraplegia by Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico

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_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_004984.4(KIF5A):c.1233dup (p.Glu412fs)
NM_014946.4(SPAST):c.1414-2A>T rs1553318304
NM_014946.4(SPAST):c.1537-8T>G rs2148759354
NM_014946.4(SPAST):c.1729-1G>C rs1064793976

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