ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1593C>T (p.Ala531=) rs148630935 0.00720
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_144599.5(NIPA1):c.*1007dup rs548458173 0.00118
NM_014846.4(WASHC5):c.*40del rs550928439 0.00074
NM_002156.4(HSPD1):c.-66T>C rs34519984 0.00014
NM_144599.5(NIPA1):c.*3127G>A rs547238314 0.00007
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_001371279.1(REEP1):c.*165del rs59345004
NM_001385875.1(ZFYVE27):c.*1229dup rs373113574
NM_004733.4(SLC33A1):c.*1673_*1676del rs143606890
NM_004984.4(KIF5A):c.*422GCAC[2] rs150797197
NM_005619.5(RTN2):c.1381-12del rs537146226
NM_014846.4(WASHC5):c.*269_*270del rs199912701
NM_014946.4(SPAST):c.*1231_*1233del rs376420990
NM_014946.4(SPAST):c.*244_*247del rs201733642
NM_014946.4(SPAST):c.*603TGT[1] rs142605868
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_144599.5(NIPA1):c.*1925_*1929del rs199507682
NM_144599.5(NIPA1):c.*2816del rs140112208
NM_144599.5(NIPA1):c.*3112dup rs556665515
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505

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