ClinVar Miner

List of variants in gene SPG11 reported as likely pathogenic for hereditary spastic paraplegia 11

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.667+5C>T rs375485062 0.00017
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.3292-1G>T rs201217015 0.00003
NM_025137.4(SPG11):c.616dup (p.Thr206fs) rs756103019 0.00003
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.4075del (p.Ile1359fs) rs1405032433 0.00001
NM_025137.4(SPG11):c.6205+1G>A rs753650233 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NC_000015.9:g.(?_44887437)_(44891054_?)dup
NC_000015.9:g.(?_44918627)_(44928701_?)del
NC_000015.9:g.(?_44921451)_(44925371_?)del
NC_000015.9:g.(?_44945058)_(44949397_?)del
NM_025137.4(SPG11):c.1008-1G>A rs2141107413
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1275del (p.Ile425fs)
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
NM_025137.4(SPG11):c.1456+1G>T
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273
NM_025137.4(SPG11):c.1602+1G>A
NM_025137.4(SPG11):c.1603-25_1690del rs2141056788
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)
NM_025137.4(SPG11):c.1877del (p.Phe626fs) rs2083989142
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) rs1303294230
NM_025137.4(SPG11):c.1987_1988del (p.Asp663fs)
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2068-1G>A
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
NM_025137.4(SPG11):c.2316+5G>A rs879255274
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs) rs312262741
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
NM_025137.4(SPG11):c.2517del (p.Asp840fs) rs2141027980
NM_025137.4(SPG11):c.258-2A>G rs781665076
NM_025137.4(SPG11):c.2790del (p.Cys931fs) rs1085307097
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter) rs372906057
NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)
NM_025137.4(SPG11):c.2984_2985del (p.Tyr995fs)
NM_025137.4(SPG11):c.3016dup (p.Tyr1006fs)
NM_025137.4(SPG11):c.3037_3038+8del
NM_025137.4(SPG11):c.3039-1G>A
NM_025137.4(SPG11):c.3039-1G>T
NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3114_3145+45del rs2083509815
NM_025137.4(SPG11):c.3145+1G>T rs956922949
NM_025137.4(SPG11):c.3146-1G>C
NM_025137.4(SPG11):c.3292-1G>C
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer) rs768131119
NM_025137.4(SPG11):c.3372del (p.Lys1125fs)
NM_025137.4(SPG11):c.3453+1G>T
NM_025137.4(SPG11):c.3454-28A>G
NM_025137.4(SPG11):c.3520+1G>A
NM_025137.4(SPG11):c.3521-2A>G
NM_025137.4(SPG11):c.3686+2_3686+3del rs1268481547
NM_025137.4(SPG11):c.3687-1_3687delinsTA
NM_025137.4(SPG11):c.3687-2A>G
NM_025137.4(SPG11):c.3729del (p.Ser1244fs) rs2140978326
NM_025137.4(SPG11):c.3783del (p.Gly1262fs)
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.3808del (p.Val1270fs)
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_025137.4(SPG11):c.3893-14_3902inv
NM_025137.4(SPG11):c.3902dup (p.Ser1302fs)
NM_025137.4(SPG11):c.4000_4001del (p.Arg1334fs)
NM_025137.4(SPG11):c.4002-2A>C
NM_025137.4(SPG11):c.4002-7_4002-1del
NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)
NM_025137.4(SPG11):c.4162-10T>G
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
NM_025137.4(SPG11):c.4404_4407del (p.Ile1469fs)
NM_025137.4(SPG11):c.442+4_442+7del
NM_025137.4(SPG11):c.443-1G>A rs1040633382
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4492_4493del (p.Val1498fs)
NM_025137.4(SPG11):c.4580del (p.Leu1527fs)
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter) rs1362530862
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter) rs2082843264
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs) rs1418873962
NM_025137.4(SPG11):c.4868dup (p.Leu1623fs)
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs) rs2082842632
NM_025137.4(SPG11):c.4906+2T>C
NM_025137.4(SPG11):c.4907-10_4911del rs2082751022
NM_025137.4(SPG11):c.4907-2A>C
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
NM_025137.4(SPG11):c.5121+2T>G
NM_025137.4(SPG11):c.5122-1G>A rs2140947703
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_025137.4(SPG11):c.5199del (p.Lys1733fs) rs779268551
NM_025137.4(SPG11):c.5599del (p.Glu1867fs)
NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)
NM_025137.4(SPG11):c.5697_5706del (p.Tyr1900fs)
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter) rs312262774
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6006+1_6006+5del
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519
NM_025137.4(SPG11):c.6187_6188del (p.Thr2063fs)
NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
NM_025137.4(SPG11):c.6206-2A>G
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs) rs1555447459
NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)
NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)
NM_025137.4(SPG11):c.6343+1G>T rs1555447432
NM_025137.4(SPG11):c.6343+2T>C
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_025137.4(SPG11):c.6477+1G>C
NM_025137.4(SPG11):c.6478-2A>C rs2082374687
NM_025137.4(SPG11):c.6478-2A>G
NM_025137.4(SPG11):c.6585+2T>G rs2140920796
NM_025137.4(SPG11):c.6586-1G>A rs1060501174
NM_025137.4(SPG11):c.6586-1G>T rs1060501174
NM_025137.4(SPG11):c.6595del (p.Thr2198_Leu2199insTer)
NM_025137.4(SPG11):c.667+1G>A
NM_025137.4(SPG11):c.668-1G>A
NM_025137.4(SPG11):c.668-1G>T rs2141121333
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025137.4(SPG11):c.6755-1G>A
NM_025137.4(SPG11):c.6773_6783del (p.Gly2258fs)
NM_025137.4(SPG11):c.6826_6843+8del rs1595817498
NM_025137.4(SPG11):c.6844-2A>G rs2140913822
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.6967dup (p.Asp2323fs)
NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
NM_025137.4(SPG11):c.6999+1G>A rs1191614292
NM_025137.4(SPG11):c.6999+1G>C rs1191614292
NM_025137.4(SPG11):c.7000-1G>A
NM_025137.4(SPG11):c.7000-3_7000-2delinsGC rs2140911612
NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter) rs1555446078
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs) rs1567123492
NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)
NM_025137.4(SPG11):c.793del (p.Ser265fs)
NM_025137.4(SPG11):c.856_857dup (p.Asn286fs)

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