ClinVar Miner

List of variants reported as benign for Spastic paraplegia, autosomal dominant

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Total variants: 57
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HGVS dbSNP
NM_001164731.2(REEP1):c.*1318C>T rs12328643
NM_001164731.2(REEP1):c.*2076del rs11350708
NM_001164731.2(REEP1):c.*2110dup rs200132323
NM_001164731.2(REEP1):c.*2827T>C rs57249135
NM_001164731.2(REEP1):c.*2885_*2888dup rs397794472
NM_001164731.2(REEP1):c.*2886A>C rs7580424
NM_001164731.2(REEP1):c.*2920T>G rs708600
NM_001164731.2(REEP1):c.*691G>A rs60838463
NM_001164731.2(REEP1):c.-52_-48AGCCG[3] rs544099237
NM_001164732.2(REEP1):c.182+9253G>A rs2276625
NM_002156.5(HSPD1):c.-15C>T rs13165
NM_002156.5(HSPD1):c.1140C>T (p.Val380=) rs61736612
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347
NM_004733.4(SLC33A1):c.*1619A>G rs10513483
NM_004733.4(SLC33A1):c.*179dup rs201290926
NM_004733.4(SLC33A1):c.-343G>A rs1131925
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly) rs3804769
NM_004984.4(KIF5A):c.36+5C>T rs775249
NM_014846.4(WASHC5):c.-124-10G>T rs16900369
NM_014846.4(WASHC5):c.1764+12A>G rs3765213
NM_014846.4(WASHC5):c.187-3C>T rs16900368
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889
NM_014846.4(WASHC5):c.417+11A>G rs2384917
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014946.3(SPAST):c.*1544G>T rs6709048
NM_014946.3(SPAST):c.*1545T>G rs9789593
NM_014946.3(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.3(SPAST):c.*2264G>A rs3769602
NM_015915.4(ATL1):c.*305T>C rs2291674
NM_015915.4(ATL1):c.351G>A (p.Glu117=) rs1060197
NM_015915.4(ATL1):c.630+7G>A rs3759588
NM_015915.4(ATL1):c.84A>G (p.Pro28=) rs35014209
NM_144588.7(ZFYVE27):c.*1308A>C rs1047537
NM_144588.7(ZFYVE27):c.*1379G>A rs13389
NM_144588.7(ZFYVE27):c.*248T>C rs3814559
NM_144588.7(ZFYVE27):c.*367G>A rs3814560
NM_144588.7(ZFYVE27):c.*40A>G rs1981237
NM_144588.7(ZFYVE27):c.*696G>A rs4244329
NM_144588.7(ZFYVE27):c.-1G>A rs3818876
NM_144588.7(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993
NM_144588.7(ZFYVE27):c.456-12C>T rs12264401
NM_144599.5(NIPA1):c.*1127C>G rs1059774
NM_144599.5(NIPA1):c.*1563C>T rs72698098
NM_144599.5(NIPA1):c.*1846dup rs113532349
NM_144599.5(NIPA1):c.*1927A>G rs17807140
NM_144599.5(NIPA1):c.*1974C>A rs6606823
NM_144599.5(NIPA1):c.*1981A>G rs6606822
NM_144599.5(NIPA1):c.*2058_*2059insTT rs3057642
NM_144599.5(NIPA1):c.*2425A>G rs12902722
NM_144599.5(NIPA1):c.*2515G>C rs6606820
NM_144599.5(NIPA1):c.*287T>C rs3812924
NM_144599.5(NIPA1):c.*3702C>T rs3812923
NM_144599.5(NIPA1):c.*435_*436del rs10611411
NM_144599.5(NIPA1):c.*4933C>T rs7181789
NM_144599.5(NIPA1):c.*972C>T rs8025849
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683

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