ClinVar Miner

List of variants studied for autosomal dominant complex spastic paraplegia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_020738.4(KIDINS220):c.2849-25T>A rs12476359 0.97631
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His) rs1044280 0.26219
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=) rs61742863 0.06114
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 0.00627
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu) rs202094672 0.00127
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile) rs200104720 0.00093
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser) rs77973158 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=) rs150868908 0.00021
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=) rs369693571 0.00018
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_020738.4(KIDINS220):c.207+3A>G rs374940372 0.00010
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His) rs368435770 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) rs749917957 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) rs778486956 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val) rs569086681 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln) rs755319483 0.00001
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg) rs569904858 0.00001
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met) rs771589853 0.00001
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val) rs751558047
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln) rs147348068
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) rs766264810
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser) rs2139621272
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val) rs1671352434
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg) rs1376895839
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
NM_020738.4(KIDINS220):c.3415-4A>G rs1666821581
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.3529-5G>T
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter) rs1664428695
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter) rs1057519300
NM_020738.4(KIDINS220):c.4053+1G>T rs1664419023
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter) rs1057519301
NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter) rs1553305080
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)
NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter) rs2147945457
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs) rs2147945425
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs) rs34141362
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs) rs1057519302
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter) rs1664085645
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser) rs2147943225
NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro) rs1664034594
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs) rs1131692229
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val) rs1675445207
NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)
NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)
NM_020738.4(KIDINS220):c.900+5G>A rs772773265
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773

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