ClinVar Miner

List of variants in gene OPTN reported as likely pathogenic for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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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
NC_000010.10:g.(?_13152353)_(13162081_?)del
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro) rs2131520977
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
NM_001008212.2(OPTN):c.875dup (p.Glu293fs) rs1833371664
NM_001008212.2(OPTN):c.882+2_882+3del

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