ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Institute of Human Genetics, University of Wuerzburg

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.862G>C (p.Val288Leu)
NM_014846.4(WASHC5):c.1522G>T (p.Val508Phe)
NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)

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