ClinVar Miner

List of variants in gene LOC108903148, OPTN studied for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.369+39T>G rs79529484 0.22121
NM_001008212.2(OPTN):c.166+66A>G rs10906303 0.20691
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00006
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.219G>A (p.Ser73=) rs1430621754 0.00003
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.-9A>G rs779282676
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.156C>T (p.His52=)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) rs1832936570
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
NM_001008212.2(OPTN):c.213G>A (p.Glu71=)
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
NM_001008212.2(OPTN):c.261G>A (p.Glu87=) rs749333165
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) rs1832971194
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
NM_001008212.2(OPTN):c.369+11C>G
NM_001008212.2(OPTN):c.369+11C>T
NM_001008212.2(OPTN):c.369+12G>A
NM_001008212.2(OPTN):c.369+2T>C
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.78C>T (p.His26=) rs1588433321
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
NM_001008212.2(OPTN):c.94C>T (p.Leu32=)
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)

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