ClinVar Miner

List of variants in gene ALS2 reported as benign for Infantile-onset ascending hereditary spastic paralysis

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Total variants: 47
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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.280A>G (p.Ile94Val) rs3219154 0.03476
NM_020919.4(ALS2):c.2842-16G>A rs9288322 0.03008
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_020919.4(ALS2):c.3625-16_3625-15del rs370628135 0.00777
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.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.4280+16A>G rs140257386 0.00133
NM_020919.4(ALS2):c.1472-18C>T rs371296732 0.00093
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.4404-18C>T rs201341532 0.00048
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_020919.4(ALS2):c.176-19T>A rs756097187 0.00035
NM_020919.4(ALS2):c.1158C>A (p.Thr386=) rs565166366 0.00029
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_020919.4(ALS2):c.4123-20T>C rs191569890 0.00008
NM_020919.4(ALS2):c.300C>T (p.Ser100=) rs41308808 0.00005
NM_020919.4(ALS2):c.1674C>A (p.Gly558=) rs750198886 0.00004
NM_020919.4(ALS2):c.2171-13T>C rs188659196 0.00001
NM_020919.4(ALS2):c.1472-20del rs571938132
NM_020919.4(ALS2):c.1738-6dup rs1051818923
NM_020919.4(ALS2):c.176-10dup rs777661762
NM_020919.4(ALS2):c.1816-10G>T rs191447972
NM_020919.4(ALS2):c.2170+16del rs746926072
NM_020919.4(ALS2):c.2418-14del rs202183857
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251
NM_020919.4(ALS2):c.4281-13del
NM_020919.4(ALS2):c.4407T>C (p.Tyr1469=)
NM_020919.4(ALS2):c.4626+19del

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