ClinVar Miner

Variants in gene ALS2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
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.1677A>G (p.Lys559=) rs367640165 0.00026
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 0.00001
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) rs773628251

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