ClinVar Miner

List of variants in gene SPG11 reported as benign

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.3146-102G>T rs12909507 0.99909
NM_025137.4(SPG11):c.667+103T>C rs7165146 0.65770
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_025137.4(SPG11):c.4907-365C>T rs2555355 0.38470
NM_025137.4(SPG11):c.4743+234G>A rs74429074 0.31043
NM_025137.4(SPG11):c.3291+261G>A rs12324194 0.10463
NM_025137.4(SPG11):c.3291+294A>G rs12324710 0.10270
NM_025137.4(SPG11):c.258-113C>A rs79974470 0.08458
NM_025137.4(SPG11):c.1008-87T>C rs78975199 0.08451
NM_025137.4(SPG11):c.6206-119A>G rs75833665 0.08134
NM_025137.4(SPG11):c.4743+291C>T rs144544199 0.05130
NM_025137.4(SPG11):c.2620+270T>G rs77656273 0.04639
NM_025137.4(SPG11):c.2317-171C>T rs76309661 0.04623
NM_025137.4(SPG11):c.6477+194T>C rs78531494 0.03553
NM_025137.4(SPG11):c.1736-143G>A rs77051719 0.03422
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_025137.4(SPG11):c.6477+97G>A rs75210501 0.02124
NM_025137.4(SPG11):c.257+276G>A rs75281924 0.02123
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_025137.4(SPG11):c.6585+210T>C rs144630601 0.02024
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_025137.4(SPG11):c.257+35G>A rs117101120 0.01291
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_025137.4(SPG11):c.2244+42T>A rs79743427 0.00526
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_025137.4(SPG11):c.4434+11T>C rs146501021 0.00456
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
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.4578A>G (p.Thr1526=) rs151137503 0.00267
NM_025137.4(SPG11):c.4001+9G>T rs141177255 0.00220
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.4755A>C (p.Ala1585=) rs144951661 0.00083
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370 0.00066
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp) rs140164220 0.00046
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930 0.00026
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121 0.00014
NM_025137.4(SPG11):c.5608T>C (p.Leu1870=) rs4254299 0.00010
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=) rs370282739 0.00007
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875 0.00006
NM_025137.4(SPG11):c.789A>G (p.Lys263=) rs764439012 0.00006
NM_025137.4(SPG11):c.23C>G (p.Ala8Gly) rs200939573 0.00004
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_025137.4(SPG11):c.4512A>T (p.Gly1504=) rs539384073 0.00001
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.1603-309G>C rs116483186
NM_025137.4(SPG11):c.1603-54dup rs199611470
NM_025137.4(SPG11):c.2316+63G>T rs117989754
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.257+17A>G rs201878138
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2621-153_2621-150del rs137921465
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.2621-9_2621-8dup
NM_025137.4(SPG11):c.3292-7del
NM_025137.4(SPG11):c.3292-7dup
NM_025137.4(SPG11):c.3292-8_3292-7dup rs753333408
NM_025137.4(SPG11):c.3892+14del
NM_025137.4(SPG11):c.4002-168del rs201600828
NM_025137.4(SPG11):c.4002-169_4002-168del rs201600828
NM_025137.4(SPG11):c.443-5del
NM_025137.4(SPG11):c.4743+220del rs1198260134
NM_025137.4(SPG11):c.4907-154_4907-153dup rs71111868
NM_025137.4(SPG11):c.4907-154dup rs71111868
NM_025137.4(SPG11):c.5073G>A (p.Arg1691=) rs2082747265
NM_025137.4(SPG11):c.5121+13_5121+15dup rs34800368
NM_025137.4(SPG11):c.5121+13dup rs34800368
NM_025137.4(SPG11):c.5121+185_5121+186dup rs67858533
NM_025137.4(SPG11):c.5121+185dup rs67858533
NM_025137.4(SPG11):c.5121+32_5121+33del rs34800368
NM_025137.4(SPG11):c.5121+33del rs34800368
NM_025137.4(SPG11):c.5866+16C>A rs530748278
NM_025137.4(SPG11):c.6006+15dup rs758198610
NM_025137.4(SPG11):c.6007-282_6007-281del rs141674769
NM_025137.4(SPG11):c.6100C>G (p.Arg2034Gly) rs118203963
NM_025137.4(SPG11):c.6205+10C>G rs548551204
NM_025137.4(SPG11):c.6205+14del
NM_025137.4(SPG11):c.6205+9dup rs775165218
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6586-19del
NM_025137.4(SPG11):c.6754+233_6754+239del rs138766339
NM_025137.4(SPG11):c.6754+57dup rs397853802
NM_025137.4(SPG11):c.6754+74del rs397853802
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308

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