ClinVar Miner

List of variants studied for Spastic paraplegia, autosomal dominant by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144599.5(NIPA1):c.*2058_*2059insTT rs3057642 0.67258
NM_001371279.1(REEP1):c.*2824_*2827dup rs397794472 0.30658
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_014946.4(SPAST):c.*1544dup rs542086083 0.00210
NM_144599.5(NIPA1):c.*1007dup rs548458173 0.00118
NM_014846.4(WASHC5):c.*40del rs550928439 0.00074
NM_144599.5(NIPA1):c.*1190_*1191del rs764504513 0.00040
NM_002156.4(HSPD1):c.-66T>C rs34519984 0.00014
NM_005619.5(RTN2):c.*217G>A rs886054502 0.00013
NM_144599.4(NIPA1):c.-19G>A rs886051009 0.00011
NM_014946.4(SPAST):c.*2999dup rs886055984 0.00010
NM_144599.5(NIPA1):c.*5395_*5396del rs886050987 0.00010
NM_144599.5(NIPA1):c.*3127G>A rs547238314 0.00007
NM_144599.5(NIPA1):c.*3316T>C rs527532188 0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_015915.5(ATL1):c.969G>C (p.Arg323=) rs753145983 0.00004
NM_002156.4(HSPD1):c.-128C>G rs886055390 0.00003
NM_014946.4(SPAST):c.*11T>C rs753913367 0.00002
NM_001371279.1(REEP1):c.*1020CA[2] rs886056408
NM_001371279.1(REEP1):c.*165del rs59345004
NM_001371279.1(REEP1):c.*1992del rs886056404
NM_001371279.1(REEP1):c.*2014_*2016del rs886056403
NM_001371279.1(REEP1):c.*2015_*2016del rs1553455537
NM_001371279.1(REEP1):c.*2015del rs11350708
NM_001371279.1(REEP1):c.*2016_*2017insA rs886056400
NM_001371279.1(REEP1):c.*2016del rs886056401
NM_001371279.1(REEP1):c.*2022del rs886056399
NM_001371279.1(REEP1):c.*2049dup rs200132323
NM_001371279.1(REEP1):c.*2050_*2051insT rs886056398
NM_001371279.1(REEP1):c.*389CA[1] rs886056409
NM_001371279.1(REEP1):c.-44AGCCG[3] rs544099237
NM_001385875.1(ZFYVE27):c.*1229dup rs373113574
NM_002156.5(HSPD1):c.*18dup rs777031722
NM_004733.4(SLC33A1):c.*1673_*1676del rs143606890
NM_004733.4(SLC33A1):c.*582_*583del rs762573505
NM_004733.4(SLC33A1):c.*893del rs886058103
NM_004984.4(KIF5A):c.*422GCAC[2] rs150797197
NM_004984.4(KIF5A):c.*422GCAC[4] rs150797197
NM_004984.4(KIF5A):c.-193G>A rs886049699
NM_005619.5(RTN2):c.1381-12del rs537146226
NM_014846.4(WASHC5):c.*269_*270del rs199912701
NM_014846.4(WASHC5):c.-124-11dup rs886062656
NM_014846.4(WASHC5):c.3423+12_3423+15del rs774994568
NM_014946.4(SPAST):c.*1231_*1233del rs376420990
NM_014946.4(SPAST):c.*1543_*1544insT rs751815134
NM_014946.4(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.4(SPAST):c.*244_*247del rs201733642
NM_014946.4(SPAST):c.*372TTGT[2] rs756347073
NM_014946.4(SPAST):c.*603TGT[1] rs142605868
NM_014946.4(SPAST):c.*815_*828delinsAAC rs886055971
NM_014946.4(SPAST):c.-104_-102del rs886055960
NM_014946.4(SPAST):c.-176C>T rs886055958
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_144599.5(NIPA1):c.*1845_*1846dup rs113532349
NM_144599.5(NIPA1):c.*1846dup rs113532349
NM_144599.5(NIPA1):c.*1925_*1929del rs199507682
NM_144599.5(NIPA1):c.*2727dup rs746846799
NM_144599.5(NIPA1):c.*2816del rs140112208
NM_144599.5(NIPA1):c.*3112dup rs556665515
NM_144599.5(NIPA1):c.*435_*436del rs10611411
NM_144599.5(NIPA1):c.*5474_*5477del rs747886565
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.