ClinVar Miner

List of variants in gene ALS2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_020919.4(ALS2):c.4936-129A>G rs7603563 0.89063
NM_020919.4(ALS2):c.4688+208G>T rs7598082 0.89029
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4281-326G>C rs7592619 0.89019
NM_020919.4(ALS2):c.4004+127A>G rs10469756 0.89018
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4281-211G>A rs2058661 0.89013
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.4935+281T>C rs7567758 0.89007
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.4005-76T>C rs2882231 0.61063
NM_020919.4(ALS2):c.2170+104G>T rs4673207 0.59632
NM_020919.4(ALS2):c.2171-287C>T rs3731702 0.56925
NM_020919.4(ALS2):c.2171-62C>T rs3731703 0.54921
NM_020919.4(ALS2):c.2351+204G>A rs10451572 0.54893
NM_020919.4(ALS2):c.2581-133T>C rs13029960 0.52895
NM_020919.4(ALS2):c.1999-213C>T rs3820967 0.50660
NM_020919.4(ALS2):c.1815+216C>G rs7561225 0.49548
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_020919.4(ALS2):c.3702+113G>A rs7572898 0.36878
NM_020919.4(ALS2):c.4936-152G>A rs3731707 0.26832
NM_020919.4(ALS2):c.4403+255C>T rs7589396 0.20254
NM_020919.4(ALS2):c.3348-75A>G rs3219163 0.19823
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_020919.4(ALS2):c.4281-92G>C rs2058662 0.17338
NM_020919.4(ALS2):c.4005-111G>A rs10200479 0.17277
NM_020919.4(ALS2):c.1114-27A>G rs28729117 0.16122
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_020919.4(ALS2):c.176-84T>G rs2075194 0.16112
NM_020919.4(ALS2):c.3702+180A>G rs79812041 0.09628
NM_020919.4(ALS2):c.3347+287G>A rs113016388 0.08842
NM_020919.4(ALS2):c.3348-313A>G rs111659619 0.08782
NM_020919.4(ALS2):c.3513-166A>G rs77292123 0.08782
NM_020919.4(ALS2):c.2713-96T>C rs7601642 0.08741
NM_020919.4(ALS2):c.2581-291T>C rs12470499 0.08727
NM_020919.4(ALS2):c.2581-274T>C rs74666822 0.08721
NM_020919.4(ALS2):c.3347+248T>C rs147764281 0.08709
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_020919.4(ALS2):c.1998+305A>G rs74422936 0.05358
NM_020919.4(ALS2):c.3513-86G>A rs55655838 0.05159
NM_020919.4(ALS2):c.2913-58C>T rs115270366 0.05079
NM_020919.4(ALS2):c.21-205G>A rs144908912 0.04330
NM_020919.4(ALS2):c.-60-318C>T rs74523306 0.03495
NM_020919.4(ALS2):c.1113+202T>G rs116568613 0.03493
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_020919.4(ALS2):c.175+251T>C rs141739392 0.03340
NM_020919.4(ALS2):c.175+239G>A rs1972580 0.03331
NM_020919.4(ALS2):c.2842-16G>A rs9288322 0.03008
NM_020919.4(ALS2):c.1998+194A>G rs76469436 0.02728
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.2980-26T>A rs41308838 0.02021
NM_020919.4(ALS2):c.4404-183A>C rs41258154 0.01799
NM_020919.4(ALS2):c.2841+253G>A rs13426362 0.01621
NM_020919.4(ALS2):c.1999-171G>C rs79625706 0.01584
NM_020919.4(ALS2):c.4004+67A>C rs75897720 0.01539
NM_020919.4(ALS2):c.2913-202A>G rs56950049 0.01512
NM_020919.4(ALS2):c.2171-181C>T rs114803685 0.01492
NM_020919.4(ALS2):c.3702+107G>T rs79985232 0.01468
NM_020919.4(ALS2):c.4581-71C>T rs58206672 0.01409
NM_020919.4(ALS2):c.4935+226C>T rs112891990 0.01405
NM_020919.4(ALS2):c.4005-75G>A rs78077917 0.01324
NM_020919.4(ALS2):c.2841+136C>T rs57508033 0.01315
NM_020919.4(ALS2):c.3512+233C>G rs141734735 0.01275
NM_020919.4(ALS2):c.1998+30A>G rs115712995 0.01100
NM_020919.4(ALS2):c.3348-290A>G rs114849386 0.01033
NM_020919.4(ALS2):c.1472-188T>G rs115566541 0.01002
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_020919.4(ALS2):c.*163A>G rs3219172 0.00975
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_020919.4(ALS2):c.4936-233G>A rs115186134 0.00816
NM_020919.4(ALS2):c.4005-311A>G rs143836255 0.00810
NM_020919.4(ALS2):c.3625-16_3625-15del rs370628135 0.00777
NM_020919.4(ALS2):c.4581-297G>A rs116356725 0.00759
NM_020919.4(ALS2):c.3249-293G>C rs145698189 0.00722
NM_020919.4(ALS2):c.21-189T>A rs182861797 0.00599
NM_020919.4(ALS2):c.21-246C>T rs187208218 0.00599
NM_020919.4(ALS2):c.21-208C>T rs140282977 0.00579
NM_020919.4(ALS2):c.175+123T>A rs535267338 0.00528
NM_020919.4(ALS2):c.4936-120G>T rs115726485 0.00514
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_020919.4(ALS2):c.2580+63G>A rs146580883 0.00481
NM_020919.4(ALS2):c.176-239C>T rs114883828 0.00457
NM_020919.4(ALS2):c.3703-135G>A rs13427256 0.00427
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
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.2580+208C>T rs150899912 0.00214
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.2979+102C>G rs192320972 0.00148
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
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.3517G>A (p.Glu1173Lys) rs41309046 0.00090
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.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_020919.4(ALS2):c.1164C>T (p.Ser388=) rs372566343 0.00018
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) rs147284131 0.00016
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val) rs542644790 0.00006
NM_020919.4(ALS2):c.725T>C (p.Met242Thr) rs200733209 0.00006
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) rs199603159 0.00004
NM_020919.4(ALS2):c.474C>T (p.Gly158=) rs373190287 0.00004
NM_020919.4(ALS2):c.2423T>G (p.Phe808Cys) rs745757311 0.00003
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) rs768018989 0.00001
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) rs752549107 0.00001
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg) rs778609581 0.00001
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) rs557709223 0.00001
NM_020919.4(ALS2):c.4069G>A (p.Val1357Ile) rs780988389 0.00001
NM_020919.4(ALS2):c.4228G>C (p.Glu1410Gln) rs1450344301 0.00001
NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu) rs1244653206 0.00001
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) rs746255868 0.00001
NM_020919.4(ALS2):c.-60-58del rs10655798
NM_020919.4(ALS2):c.-60-70_-60-69dup rs10655798
NM_020919.4(ALS2):c.-60-70dup rs10655798
NM_020919.4(ALS2):c.1109C>T (p.Ser370Phe)
NM_020919.4(ALS2):c.1156A>G (p.Thr386Ala) rs1693483438
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) rs1553513641
NM_020919.4(ALS2):c.1606G>A (p.Glu536Lys)
NM_020919.4(ALS2):c.1640+154C>G rs74456961
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) rs2106071633
NM_020919.4(ALS2):c.1738-120A>C rs41308828
NM_020919.4(ALS2):c.1816-10G>T rs191447972
NM_020919.4(ALS2):c.1964G>C (p.Gly655Ala) rs759573942
NM_020919.4(ALS2):c.21-294G>A rs12465561
NM_020919.4(ALS2):c.2110C>T (p.Arg704Ter)
NM_020919.4(ALS2):c.2417+246T>C rs3731704
NM_020919.4(ALS2):c.2581-1G>C rs1057524355
NM_020919.4(ALS2):c.2581-24del rs113406595
NM_020919.4(ALS2):c.2638C>G (p.Leu880Val) rs746901960
NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile) rs1085307536
NM_020919.4(ALS2):c.2713-198_2713-195del rs138393905
NM_020919.4(ALS2):c.2841+261G>A rs11693071
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) rs1553506317
NM_020919.4(ALS2):c.2913-30_2913-26del rs138413079
NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala) rs2106008063
NM_020919.4(ALS2):c.2979+155dup rs11392576
NM_020919.4(ALS2):c.3347+227dup rs200113676
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) rs1057523547
NM_020919.4(ALS2):c.3702+183G>T rs78117864
NM_020919.4(ALS2):c.3702+51dup rs3219165
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) rs781519422
NM_020919.4(ALS2):c.4005-127T>C rs112993737
NM_020919.4(ALS2):c.4005-134G>T rs16838095
NM_020919.4(ALS2):c.4123-152dup rs11407264
NM_020919.4(ALS2):c.4281-196C>T rs77202762
NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys) rs2105969377
NM_020919.4(ALS2):c.4403+246A>G rs115996502
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) rs1057524356
NM_020919.4(ALS2):c.4581-313dup rs56953805
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) rs1057522810
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) rs1064793583
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) rs537187775

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