ClinVar Miner

List of variants in gene OPTN reported as benign 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: 18
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03152
NM_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys) rs523747 0.00719
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00525
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00118
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00095
NM_001008212.2(OPTN):c.1148+13A>G rs368654623 0.00061
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00035
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.964= (p.Glu322=)

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