ClinVar Miner

List of variants in gene SPG11 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
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.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
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.2656T>C (p.Tyr886His) rs139687202 0.00369
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.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.5121G>T (p.Glu1707Asp) rs145643238 0.00103
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.4026A>G (p.Gln1342=) rs139887370 0.00066
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.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
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.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp) rs368992436 0.00006
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352 0.00006
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile) rs371310453 0.00004
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro) rs1235556400 0.00003
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.3894C>T (p.Ala1298=) rs1352070054 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=) rs1194478318 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr) rs199873327 0.00002
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His) rs745498485 0.00001
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.255G>A (p.Trp85Ter) rs957519261 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn) rs749192217 0.00001
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr) rs758982525 0.00001
NM_025137.4(SPG11):c.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His) rs373641013 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.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys) rs146937747 0.00001
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) rs532737377 0.00001
NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile) rs1313297244 0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser) rs777798718 0.00001
GRCh37/hg19 15q21.1(chr15:44912388-44925835)x1
NM_025137.4(SPG11):c.1603-5T>C rs2084149728
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.219G>A (p.Arg73=)
NM_025137.4(SPG11):c.2223C>T (p.Ala741=)
NM_025137.4(SPG11):c.227del (p.Gly76fs)
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys) rs2085177672
NM_025137.4(SPG11):c.2583A>C (p.Thr861=) rs2141027797
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.2621-6A>G
NM_025137.4(SPG11):c.2621-8del rs577083743
NM_025137.4(SPG11):c.2641G>A (p.Glu881Lys) rs1595889023
NM_025137.4(SPG11):c.264A>G (p.Leu88=) rs779845183
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2719C>A (p.His907Asn) rs1411461951
NM_025137.4(SPG11):c.2903G>A (p.Gly968Glu)
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3237A>T (p.Gly1079=)
NM_025137.4(SPG11):c.3271T>G (p.Ser1091Ala) rs2141004955
NM_025137.4(SPG11):c.339G>C (p.Leu113=) rs373238538
NM_025137.4(SPG11):c.4123ATT[1] (p.Ile1376del) rs2140973530
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4473C>T (p.Ile1491=) rs2083009929
NM_025137.4(SPG11):c.5121+7_5121+9del rs1567139976
NM_025137.4(SPG11):c.5553A>T (p.Thr1851=)
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6303G>A (p.Leu2101=) rs1595826884
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.636T>A (p.Ile212=) rs1595937717
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6755A>C (p.Glu2252Ala) rs1555446548
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu) rs146914461
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.759A>G (p.Pro253=)
NM_025137.4(SPG11):c.782C>T (p.Ser261Leu) rs765477482
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308
NM_025137.4(SPG11):c.869+1G>T rs312262721
NM_025137.4(SPG11):c.966C>T (p.Ala322=)

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