ClinVar Miner

List of variants reported as likely benign for Spastic paraplegia, autosomal dominant by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 192
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HGVS dbSNP
NM_001002261.3(ZFYVE27):c.*1150C>T rs573448961
NM_001002261.3(ZFYVE27):c.*1229dupG rs373113574
NM_001002261.3(ZFYVE27):c.*1310T>C rs147739377
NM_001002261.3(ZFYVE27):c.*132C>T rs115982037
NM_001002261.3(ZFYVE27):c.*1517G>C rs41290466
NM_001002261.3(ZFYVE27):c.*163C>G rs41290464
NM_001002261.3(ZFYVE27):c.*163C>T rs41290464
NM_001002261.3(ZFYVE27):c.*413C>T rs181508408
NM_001002261.3(ZFYVE27):c.*778C>T rs548911456
NM_001002261.3(ZFYVE27):c.*894G>C rs534547830
NM_001002261.3(ZFYVE27):c.1104+3G>A rs556454107
NM_001002261.3(ZFYVE27):c.126C>T (p.Leu42=) rs17419023
NM_001002261.3(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378
NM_001002261.3(ZFYVE27):c.32C>T (p.Pro11Leu) rs112316490
NM_001002261.3(ZFYVE27):c.378G>A (p.Lys126=) rs75060573
NM_001002261.3(ZFYVE27):c.508G>A (p.Ala170Thr) rs555051885
NM_001002261.3(ZFYVE27):c.516C>T (p.Arg172=) rs116366646
NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_001002261.3(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293
NM_001002261.3(ZFYVE27):c.79C>G (p.Pro27Ala) rs34979921
NM_001002261.3(ZFYVE27):c.891+15C>T rs202196759
NM_002156.4(HSPD1):c.-3+15C>T rs59701865
NM_002156.4(HSPD1):c.-66T>C rs34519984
NM_002156.4(HSPD1):c.1216-9C>T rs189395138
NM_002156.4(HSPD1):c.1360T>C (p.Leu454=) rs147135152
NM_002156.4(HSPD1):c.1446T>C (p.Asn482=) rs2303884
NM_002156.4(HSPD1):c.144C>T (p.Ala48=) rs11551346
NM_002156.4(HSPD1):c.1688G>C (p.Gly563Ala) rs41265953
NM_002156.4(HSPD1):c.18A>G (p.Thr6=) rs79630442
NM_002156.4(HSPD1):c.27C>G (p.Arg9=) rs11551349
NM_002156.4(HSPD1):c.561T>C (p.Ser187=) rs141357756
NM_002156.4(HSPD1):c.603A>G (p.Val201=) rs146598485
NM_004733.3(SLC33A1):c.*105G>A rs528825751
NM_004733.3(SLC33A1):c.*1141A>T rs77664705
NM_004733.3(SLC33A1):c.*1673_*1676delAAAA rs143606890
NM_004733.3(SLC33A1):c.*169delA rs139894444
NM_004733.3(SLC33A1):c.*322A>G rs144921458
NM_004733.3(SLC33A1):c.*510A>T rs550090276
NM_004733.3(SLC33A1):c.-125C>T rs144110429
NM_004733.3(SLC33A1):c.-33C>G rs192078418
NM_004733.3(SLC33A1):c.-43C>T rs140074495
NM_004733.3(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533
NM_004733.3(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992
NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004733.3(SLC33A1):c.169G>C (p.Gly57Arg) rs150651158
NM_004733.3(SLC33A1):c.327A>G (p.Gln109=) rs74578336
NM_004984.2(KIF5A):c.2769G>A (p.Arg923=) rs35225609
NM_004984.3(KIF5A):c.*163C>T rs77345621
NM_004984.3(KIF5A):c.*430_*433delGCAC rs150797197
NM_004984.3(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639
NM_004984.3(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.3(KIF5A):c.1293+9G>A rs201749114
NM_004984.3(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.3(KIF5A):c.2199-4G>A rs201366820
NM_004984.3(KIF5A):c.2418G>A (p.Thr806=) rs113155897
NM_004984.3(KIF5A):c.2775C>A (p.Gly925=) rs759750438
NM_004984.3(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943
NM_004984.3(KIF5A):c.292-5G>A rs201917057
NM_004984.3(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_004984.3(KIF5A):c.396+14G>A rs17119769
NM_004984.3(KIF5A):c.714+8G>A rs199624091
NM_005619.4(RTN2):c.1143G>A (p.Ala381=) rs45532933
NM_014846.3(WASHC5):c.*269_*270delGT rs199912701
NM_014846.3(WASHC5):c.*40delA rs550928439
NM_014846.3(WASHC5):c.*78A>G rs188863489
NM_014846.3(WASHC5):c.-178T>C rs370705310
NM_014846.3(WASHC5):c.-241G>A rs563795659
NM_014846.3(WASHC5):c.-245C>G rs185375174
NM_014846.3(WASHC5):c.-253G>A rs533362974
NM_014846.3(WASHC5):c.1029A>G (p.Gln343=) rs140523354
NM_014846.3(WASHC5):c.1151-8G>A rs16900335
NM_014846.3(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043
NM_014846.3(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.3(WASHC5):c.1408+7A>G rs16900312
NM_014846.3(WASHC5):c.2017-13T>C rs74458977
NM_014846.3(WASHC5):c.2098-13G>A rs375720047
NM_014846.3(WASHC5):c.2100G>A (p.Val700=) rs148936723
NM_014846.3(WASHC5):c.2199+4C>A rs145721086
NM_014846.3(WASHC5):c.2771-7T>C rs142685897
NM_014846.3(WASHC5):c.316A>G (p.Ile106Val) rs142907217
NM_014846.3(WASHC5):c.3225A>G (p.Pro1075=) rs34569226
NM_014846.3(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.3(WASHC5):c.555T>C (p.Asp185=) rs145934920
NM_014846.3(WASHC5):c.636C>T (p.Phe212=) rs190007736
NM_014846.3(WASHC5):c.655G>A (p.Glu219Lys) rs143719918
NM_014846.3(WASHC5):c.732G>A (p.Pro244=) rs146320386
NM_014946.3(SPAST):c.*1231_*1233delCAT rs376420990
NM_014946.3(SPAST):c.*1376A>G rs575900032
NM_014946.3(SPAST):c.*1410T>G rs75645928
NM_014946.3(SPAST):c.*1454G>C rs147052682
NM_014946.3(SPAST):c.*1604G>A rs192438402
NM_014946.3(SPAST):c.*1962A>G rs187724468
NM_014946.3(SPAST):c.*1963A>G rs192476121
NM_014946.3(SPAST):c.*1969A>T rs533154653
NM_014946.3(SPAST):c.*1995A>G rs540679757
NM_014946.3(SPAST):c.*19C>T rs558483397
NM_014946.3(SPAST):c.*2150G>C rs147721392
NM_014946.3(SPAST):c.*2318G>A rs141017850
NM_014946.3(SPAST):c.*2399C>T rs72796869
NM_014946.3(SPAST):c.*2433A>G rs569779105
NM_014946.3(SPAST):c.*244_*247delTTAG rs201733642
NM_014946.3(SPAST):c.*256A>G rs6730400
NM_014946.3(SPAST):c.*2583C>T rs138968325
NM_014946.3(SPAST):c.*2589T>G rs149425698
NM_014946.3(SPAST):c.*3013T>C rs72796870
NM_014946.3(SPAST):c.*51A>G rs6730121
NM_014946.3(SPAST):c.*591A>T rs115996749
NM_014946.3(SPAST):c.*606_*608delTGT rs142605868
NM_014946.3(SPAST):c.*765A>C rs141666739
NM_014946.3(SPAST):c.*819C>T rs186529600
NM_014946.3(SPAST):c.*98A>G rs56272862
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.586+9_586+12delTAAT rs554544808
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.828T>C (p.Ser276=) rs77525846
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015915.4(ATL1):c.*212T>A rs372073012
NM_015915.4(ATL1):c.*392C>A rs138209522
NM_015915.4(ATL1):c.*450A>G rs183817549
NM_015915.4(ATL1):c.*475G>A rs111734056
NM_015915.4(ATL1):c.*621G>A rs1060183
NM_015915.4(ATL1):c.408T>C (p.Asp136=) rs76375909
NM_015915.4(ATL1):c.417+3A>G rs200310890
NM_015915.4(ATL1):c.621G>A (p.Lys207=) rs35629585
NM_015915.4(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_015915.4(ATL1):c.693T>C (p.Gly231=) rs139720661
NM_015915.4(ATL1):c.705C>T (p.Phe235=) rs35044504
NM_015915.4(ATL1):c.991-6T>G rs192428744
NM_022912.2(REEP1):c.*1015G>A rs17510310
NM_022912.2(REEP1):c.*1026G>A rs76860896
NM_022912.2(REEP1):c.*1278A>G rs190070319
NM_022912.2(REEP1):c.*1386T>C rs3731816
NM_022912.2(REEP1):c.*1476G>T rs116705276
NM_022912.2(REEP1):c.*155T>C rs141976852
NM_022912.2(REEP1):c.*1675G>A rs3731817
NM_022912.2(REEP1):c.*2192G>A rs58401741
NM_022912.2(REEP1):c.*226delT rs59345004
NM_022912.2(REEP1):c.*2518G>C rs77055865
NM_022912.2(REEP1):c.*2546G>A rs146273697
NM_022912.2(REEP1):c.*2574G>A rs115098584
NM_022912.2(REEP1):c.*2640T>C rs11902617
NM_022912.2(REEP1):c.*3056T>C rs17438464
NM_022912.2(REEP1):c.*50G>A rs189652973
NM_022912.2(REEP1):c.*724G>C rs142894251
NM_022912.2(REEP1):c.*798T>C rs150465452
NM_022912.2(REEP1):c.*967C>T rs140533240
NM_022912.2(REEP1):c.486C>T (p.Asp162=) rs139806812
NM_022912.2(REEP1):c.582C>T (p.Ser194=) rs540194528
NM_144599.4(NIPA1):c.*1007dupT rs548458173
NM_144599.4(NIPA1):c.*1012A>G rs186626641
NM_144599.4(NIPA1):c.*1146T>C rs181621508
NM_144599.4(NIPA1):c.*11G>C rs188393827
NM_144599.4(NIPA1):c.*1395C>T rs537516417
NM_144599.4(NIPA1):c.*1405G>C rs7181585
NM_144599.4(NIPA1):c.*1724C>G rs61523596
NM_144599.4(NIPA1):c.*1788G>A rs540627450
NM_144599.4(NIPA1):c.*1925_*1929delAAAAT rs199507682
NM_144599.4(NIPA1):c.*2469A>G rs73412688
NM_144599.4(NIPA1):c.*2497G>T rs183616718
NM_144599.4(NIPA1):c.*2649A>G rs8027756
NM_144599.4(NIPA1):c.*2780G>T rs183353690
NM_144599.4(NIPA1):c.*2816delG rs140112208
NM_144599.4(NIPA1):c.*3112dupC rs556665515
NM_144599.4(NIPA1):c.*3127G>A rs547238314
NM_144599.4(NIPA1):c.*3278C>G rs57615013
NM_144599.4(NIPA1):c.*3393A>T rs147611065
NM_144599.4(NIPA1):c.*3400C>T rs577663387
NM_144599.4(NIPA1):c.*3480C>T rs112696483
NM_144599.4(NIPA1):c.*3590A>G rs145202306
NM_144599.4(NIPA1):c.*3872T>G rs528309949
NM_144599.4(NIPA1):c.*3910G>A rs74767096
NM_144599.4(NIPA1):c.*4363C>T rs139459875
NM_144599.4(NIPA1):c.*4734G>C rs73412685
NM_144599.4(NIPA1):c.*4774G>A rs541776619
NM_144599.4(NIPA1):c.*4792G>T rs139161065
NM_144599.4(NIPA1):c.*4885T>C rs555159081
NM_144599.4(NIPA1):c.*4964G>A rs146129067
NM_144599.4(NIPA1):c.*5071C>T rs141920126
NM_144599.4(NIPA1):c.*5185C>T rs569739849
NM_144599.4(NIPA1):c.*5299G>C rs73412682
NM_144599.4(NIPA1):c.*5331T>G rs73412681
NM_144599.4(NIPA1):c.312G>A (p.Pro104=) rs139372534
NM_144599.4(NIPA1):c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla) rs531550505
NM_144599.4(NIPA1):c.45_47delGGC (p.Ala16del) rs531550505
NM_144599.4(NIPA1):c.537C>T (p.Ile179=) rs547634456
NM_144599.4(NIPA1):c.801G>T (p.Val267=) rs185222838
NM_206900.2(RTN2):c.1162-12delC rs537146226
NM_206900.2(RTN2):c.1374C>T (p.Ala458=) rs148630935
NM_206900.2(RTN2):c.949G>A (p.Gly317Ser) rs143937661

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