ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 2, juvenile

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_020919.4(ALS2):c.4004+25C>T rs3219167 0.81578
NM_020919.4(ALS2):c.2171-62C>T rs3731703 0.54921
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_020919.4(ALS2):c.*1004G>A rs11300 0.07577
NM_020919.4(ALS2):c.*893C>T rs3219174 0.05509
NM_020919.4(ALS2):c.-95G>C rs77327610 0.03775
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.*447G>A rs3219173 0.01169
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_020919.4(ALS2):c.*379T>A rs144613080 0.00995
NM_020919.4(ALS2):c.*163A>G rs3219172 0.00975
NM_020919.4(ALS2):c.*942A>G rs41309066 0.00903
NM_020919.4(ALS2):c.*843G>A rs41309062 0.00827
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_020919.4(ALS2):c.*1202C>T rs41309068 0.00327
NM_020919.4(ALS2):c.2842-20C>T rs189282198 0.00288
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) rs199577696 0.00105
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_020919.4(ALS2):c.*584G>A rs577282089 0.00041
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) rs199757764 0.00021
NM_020919.4(ALS2):c.*1538C>G rs868173236 0.00016
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) rs200417604 0.00015
NM_020919.4(ALS2):c.*504G>A rs183326117 0.00014
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_020919.4(ALS2):c.396G>A (p.Pro132=) rs374978798 0.00013
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) rs201089588 0.00010
NM_020919.4(ALS2):c.*586G>A rs905259072 0.00008
NM_020919.4(ALS2):c.366G>A (p.Gln122=) rs775483404 0.00008
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) rs368315489 0.00007
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) rs370591665 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) rs1242751535 0.00005
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) rs181782027 0.00004
NM_020919.4(ALS2):c.2953C>T (p.Leu985Phe) rs41308836 0.00004
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) rs41308810 0.00004
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) rs190606035 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) rs777806515 0.00003
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) rs750482532 0.00002
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) rs886055454 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) rs149670991 0.00002
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) rs370824570 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.*1093C>T rs983208576 0.00001
NM_020919.4(ALS2):c.*1249G>A rs886055451 0.00001
NM_020919.4(ALS2):c.*1259A>G rs888553434 0.00001
NM_020919.4(ALS2):c.*1398C>A rs759248084 0.00001
NM_020919.4(ALS2):c.*1501A>G rs1689312301 0.00001
NM_020919.4(ALS2):c.*1533C>T rs763133240 0.00001
NM_020919.4(ALS2):c.*302A>G rs1054683729 0.00001
NM_020919.4(ALS2):c.-31T>A rs886055456 0.00001
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) rs41308816 0.00001
NM_020919.4(ALS2):c.1325G>T (p.Gly442Val) rs780750146 0.00001
NM_020919.4(ALS2):c.1402G>A (p.Val468Met) rs1412043555 0.00001
NM_020919.4(ALS2):c.1545A>C (p.Gly515=) rs377402588 0.00001
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) rs201496655 0.00001
NM_020919.4(ALS2):c.20+9A>G rs763370210 0.00001
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) rs1184685995 0.00001
NM_020919.4(ALS2):c.2450A>G (p.Gln817Arg) rs751084476 0.00001
NM_020919.4(ALS2):c.2472C>T (p.Asp824=) rs761267157 0.00001
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) rs1265678329 0.00001
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) rs375742430 0.00001
NM_020919.4(ALS2):c.2912+8C>T rs528131651 0.00001
NM_020919.4(ALS2):c.2961A>G (p.Ser987=) rs780301796 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) rs557709223 0.00001
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) rs780354290 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) rs1689580631 0.00001
NM_020919.4(ALS2):c.*1079A>G rs1689339340
NM_020919.4(ALS2):c.*1219C>G rs549727520
NM_020919.4(ALS2):c.*1328G>T rs998591070
NM_020919.4(ALS2):c.*15T>G rs561331219
NM_020919.4(ALS2):c.*426T>A rs535733859
NM_020919.4(ALS2):c.*764A>G rs74933581
NM_020919.4(ALS2):c.*912A>G rs572942753
NM_020919.4(ALS2):c.-93A>G rs373055404
NM_020919.4(ALS2):c.-99C>T rs1047871413
NM_020919.4(ALS2):c.1011A>G (p.Pro337=) rs1574786314
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) rs1693726956
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.1250C>G (p.Ser417Ter)
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) rs1085307055
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) rs2106071765
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) rs199603159
NM_020919.4(ALS2):c.1816-7G>A rs763440221
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) rs1574748038
NM_020919.4(ALS2):c.2168dup (p.Leu723fs)
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) rs886055455
NM_020919.4(ALS2):c.2580+15A>G rs1691683706
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.2707dup (p.Met903fs) rs2106012637
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.346G>A (p.Gly116Arg) rs1693775888
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700
NM_020919.4(ALS2):c.3893del (p.Asp1298fs)
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_020919.4(ALS2):c.4123-4T>C rs886055453
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) rs2105972075
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) rs886055452
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) rs1214757167
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.4627-4G>A rs765859367
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779

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