ClinVar Miner

List of variants in gene ALS2 reported as uncertain significance for not provided

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
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.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) rs371454893 0.00010
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) rs568716023 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
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.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) rs200990057 0.00004
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) rs199603159 0.00004
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) rs745544432 0.00004
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) rs769268310 0.00003
NM_020919.4(ALS2):c.2423T>G (p.Phe808Cys) rs745757311 0.00003
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) rs760204583 0.00003
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) rs1216448093 0.00002
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) rs886055454 0.00002
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) rs569869571 0.00002
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly) rs778099581 0.00002
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) rs199947290 0.00002
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) rs768018989 0.00001
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) rs763352024 0.00001
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser) rs1693481434 0.00001
NM_020919.4(ALS2):c.146G>T (p.Gly49Val) rs1461116724 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 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.3440C>G (p.Ser1147Cys) rs777004596 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.4382G>A (p.Arg1461Gln) rs758889641 0.00001
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) rs772543276 0.00001
NM_020919.4(ALS2):c.4642A>G (p.Lys1548Glu) rs1244653206 0.00001
NM_020919.4(ALS2):c.1009C>T (p.Pro337Ser) rs752311938
NM_020919.4(ALS2):c.1109C>T (p.Ser370Phe)
NM_020919.4(ALS2):c.1156A>G (p.Thr386Ala) rs1693483438
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) rs1553513641
NM_020919.4(ALS2):c.1606G>A (p.Glu536Lys)
NM_020919.4(ALS2):c.1618G>A (p.Gly540Arg)
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) rs2106071633
NM_020919.4(ALS2):c.1737+7G>A
NM_020919.4(ALS2):c.1738-4A>G
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) rs61757690
NM_020919.4(ALS2):c.1964G>C (p.Gly655Ala) rs759573942
NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) rs2106090105
NM_020919.4(ALS2):c.2296G>A (p.Ala766Thr)
NM_020919.4(ALS2):c.2410C>A (p.Pro804Thr)
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) rs1057519209
NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu) rs368315489
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.281T>G (p.Ile94Ser) rs780766554
NM_020919.4(ALS2):c.2919C>G (p.Gly973=) rs2106008091
NM_020919.4(ALS2):c.2929A>G (p.Thr977Ala) rs2106008063
NM_020919.4(ALS2):c.2979+5G>A rs1553506071
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) rs776807292
NM_020919.4(ALS2):c.3249-6T>G rs757393391
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) rs2106003724
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) rs1064797280
NM_020919.4(ALS2):c.3702+326A>G
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=) rs2105982146
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) rs781519422
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=) rs1190350825
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) rs1420843762
NM_020919.4(ALS2):c.4303G>A (p.Glu1435Lys) rs2105969377
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)
NM_020919.4(ALS2):c.4403+4A>G rs1559031941
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) rs1057524356
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn) rs2106102596
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg) rs1693768928
NM_020919.4(ALS2):c.596C>T (p.Ala199Val)
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) rs1057522810
NM_020919.4(ALS2):c.628G>T (p.Ala210Ser) rs200372769
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) rs537187775

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