ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 2, juvenile by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
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.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.*843G>A rs41309062 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

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