ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.1149-2A>G rs867368757 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001008212.2(OPTN):c.780-2A>C rs768117011 0.00001
NM_001008212.2(OPTN):c.1401+1G>A rs1370982012
NM_001008212.2(OPTN):c.370-1G>A rs2131488754
NM_001008212.2(OPTN):c.780-1G>C rs759311192

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