ClinVar Miner

List of variants reported for Spastic paraplegia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754 0.00001
NM_001371279.1(REEP1):c.33-2A>G rs1574077569
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290
NM_014946.4(SPAST):c.513_514del (p.Cys171_Glu172delinsTer) rs1573072864
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
Single allele

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