ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia

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Total variants: 14
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HGVS dbSNP
NM_000425.5(L1CAM):c.1702_1703+14del
NM_001278116.2(L1CAM):c.2137+1G>A rs1557091278
NM_001278116.2(L1CAM):c.3046+1G>C rs1557090220
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr)
NM_004187.4(KDM5C):c.1A>G (p.Met1Val) rs1569285562
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs)
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) rs1553262438
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) rs1558119445
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513

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