ClinVar Miner

List of variants in gene SPG11 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_025137.4(SPG11):c.443-316T>G rs114266029 0.01372
NM_025137.4(SPG11):c.443-212G>C rs112155039 0.01314
NM_025137.4(SPG11):c.2067+222A>C rs112818446 0.01302
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.442+99C>T rs75927439 0.01275
NM_025137.4(SPG11):c.4636-63A>G rs115758040 0.01173
NM_025137.4(SPG11):c.6586-111C>T rs79493287 0.01098
NM_025137.4(SPG11):c.3038+220T>G rs146977031 0.00970
NM_025137.4(SPG11):c.2316+172A>G rs112793928 0.00957
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_025137.4(SPG11):c.6344-74C>T rs2277610 0.00935
NM_025137.4(SPG11):c.870-207A>G rs145474933 0.00894
NM_025137.4(SPG11):c.3686+266A>G rs57267437 0.00871
NM_025137.4(SPG11):c.3521-296G>A rs113840402 0.00870
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.6006+253T>G rs74355314 0.00814
NM_025137.4(SPG11):c.6007-147C>T rs116029561 0.00805
NM_025137.4(SPG11):c.667+234A>G rs140282876 0.00785
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.6754+50A>G rs199549712 0.00780
NM_025137.4(SPG11):c.3687-282T>C rs115892090 0.00778
NM_025137.4(SPG11):c.4162-73T>G rs7171781 0.00776
NM_025137.4(SPG11):c.3038+270G>A rs74938894 0.00752
NM_025137.4(SPG11):c.443-179C>T rs75806117 0.00747
NM_025137.4(SPG11):c.870-154G>A rs76917735 0.00745
NM_025137.4(SPG11):c.668-213G>A rs115792933 0.00742
NM_025137.4(SPG11):c.1456+275C>A rs143891528 0.00728
NM_025137.4(SPG11):c.4635+176G>A rs147160468 0.00698
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_025137.4(SPG11):c.*243A>G rs116069609 0.00669
NM_025137.4(SPG11):c.7000-274G>T rs78142819 0.00669
NM_025137.4(SPG11):c.3292-287A>C rs111613304 0.00661
NM_025137.4(SPG11):c.1008-25_1008-24del rs371678656 0.00628
NM_025137.4(SPG11):c.1456+114A>T rs116251260 0.00626
NM_025137.4(SPG11):c.2621-28A>G rs112899684 0.00616
NM_025137.4(SPG11):c.4161+185G>A rs141284090 0.00614
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_025137.4(SPG11):c.6755-294T>C rs115293798 0.00522
NM_025137.4(SPG11):c.3454-275C>A rs78573867 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_025137.4(SPG11):c.1456+113T>G rs117607419 0.00501
NM_025137.4(SPG11):c.1891+97C>T rs139607472 0.00487
NM_025137.4(SPG11):c.2621-84T>G rs142577391 0.00473
NM_025137.4(SPG11):c.6344-300A>G rs138489652 0.00467
NM_025137.4(SPG11):c.3521-130A>G rs146229836 0.00457
NM_025137.4(SPG11):c.869+55G>T rs150413709 0.00451
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_025137.4(SPG11):c.5122-227T>C rs147645643 0.00448
NM_025137.4(SPG11):c.1457-75T>C rs185233876 0.00429
NM_025137.4(SPG11):c.6585+150del rs563529236 0.00429
NM_025137.4(SPG11):c.6206-88A>G rs144670825 0.00404
NM_025137.4(SPG11):c.1456+259A>G rs77749707 0.00399
NM_025137.4(SPG11):c.3038+74C>T rs143069428 0.00370
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_025137.4(SPG11):c.2621-26T>C rs184308123 0.00360
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_025137.4(SPG11):c.258-49A>G rs149934295 0.00269
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=) rs151137503 0.00267
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00165
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014 0.00127
NM_025137.4(SPG11):c.4743+257C>T rs184245230 0.00124
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) rs201918221 0.00086
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=) rs144951661 0.00083
NM_025137.4(SPG11):c.6344-28C>T rs199934817 0.00070
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370 0.00066
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094 0.00045
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029 0.00039
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_025137.4(SPG11):c.2265A>G (p.Gln755=) rs142909555 0.00020
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193 0.00019
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121 0.00014
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr) rs775799559 0.00007
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352 0.00006
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly) rs200939573 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_025137.4(SPG11):c.1759T>C (p.Leu587=) rs1438765066 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.3291+9A>G rs769740604 0.00002
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=) rs1194478318 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.159T>C (p.Ala53=) rs1172849528 0.00001
NM_025137.4(SPG11):c.2379G>A (p.Val793=) rs202245950 0.00001
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=) rs776154524 0.00001
NM_025137.4(SPG11):c.4674G>C (p.Leu1558=) rs376125033 0.00001
NM_025137.4(SPG11):c.5082A>G (p.Glu1694=) rs914692956 0.00001
NM_025137.4(SPG11):c.612T>C (p.Ile204=) rs906644527 0.00001
NM_025137.4(SPG11):c.1007+56G>C rs114629245
NM_025137.4(SPG11):c.1457-190del rs35146282
NM_025137.4(SPG11):c.1736-193A>C rs145544135
NM_025137.4(SPG11):c.1896A>C (p.Leu632=) rs1595898295
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
NM_025137.4(SPG11):c.2244+215C>A rs149620992
NM_025137.4(SPG11):c.2244+271dup rs200813714
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2583A>C (p.Thr861=) rs2141027797
NM_025137.4(SPG11):c.2621-8del rs577083743
NM_025137.4(SPG11):c.264A>G (p.Leu88=) rs779845183
NM_025137.4(SPG11):c.2745C>T (p.Asn915=) rs1595888890
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
NM_025137.4(SPG11):c.339G>C (p.Leu113=) rs373238538
NM_025137.4(SPG11):c.4002-187dup rs201600828
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr) rs547491883
NM_025137.4(SPG11):c.4473C>T (p.Ile1491=) rs2083009929
NM_025137.4(SPG11):c.4743+204dup rs1198260134
NM_025137.4(SPG11):c.4743+71T>G rs116323165
NM_025137.4(SPG11):c.4907-193C>T rs117309433
NM_025137.4(SPG11):c.5121+121A>G rs534150787
NM_025137.4(SPG11):c.5121+13_5121+14dup rs34800368
NM_025137.4(SPG11):c.5121+13_5121+17dup rs34800368
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6478-214del rs1047071923
NM_025137.4(SPG11):c.6585+213_6585+217del rs1400952377
NM_025137.4(SPG11):c.6585+217_6585+218del rs368971139
NM_025137.4(SPG11):c.6585+220_6585+221dup rs1188132986
NM_025137.4(SPG11):c.6585+220dup rs1188132986
NM_025137.4(SPG11):c.6585+233del rs1188132986
NM_025137.4(SPG11):c.6754+57_6754+58dup rs397853802
NM_025137.4(SPG11):c.6754+75G>T rs1370132680
NM_025137.4(SPG11):c.6999+148G>C rs113977890
NM_025137.4(SPG11):c.7151+302C>T rs8041448
NM_025137.4(SPG11):c.759A>G (p.Pro253=)
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.4(SPG11):c.966C>T (p.Ala322=)

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