ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 12 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151103)_(13178886_?)del
NC_000010.10:g.(?_13151123)_(13225100_?)del
NM_001008211.1(OPTN):c.381_382insAG (p.Asp128fs)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968

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