ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 2, juvenile

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
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.4581-7A>G rs114458388 0.00827
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.3309T>C (p.His1103=) rs201920363 0.00184
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.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_020919.4(ALS2):c.2170+19T>C rs2106050526

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