ClinVar Miner

List of variants studied for hereditary spastic paraplegia by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs) rs2076942520
NM_022089.4(ATP13A2):c.558-1G>T rs2077392348

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