ClinVar Miner

List of variants in gene combination LOC108903148, OPTN reported as uncertain significance for Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser) rs776138037 0.00008
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00004
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met) rs1197658293 0.00001
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu) rs571954285 0.00001
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln) rs753480064 0.00001
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr) rs2539036228 0.00001
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu) rs959069574 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys) rs946553408 0.00001
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly) rs1308386618 0.00001
NM_001008212.2(OPTN):c.369+6C>G rs758583995 0.00001
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.125A>C (p.Gln42Pro)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.166+3G>A
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe) rs747128537
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala) rs757528160
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg) rs1452457006
NM_001008212.2(OPTN):c.252G>C (p.Gln84His)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys) rs2539036344
NM_001008212.2(OPTN):c.307G>A (p.Glu103Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp) rs1346865805
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro) rs767786342
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala) rs1016507326
NM_001008212.2(OPTN):c.369G>A (p.Glu123=)
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val) rs2539033411
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn) rs775446537
NM_001008212.2(OPTN):c.76C>A (p.His26Asn) rs200710076
NM_001008212.2(OPTN):c.76C>G (p.His26Asp) rs200710076
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr) rs1554768243
NM_001008212.2(OPTN):c.97G>C (p.Asp33His) rs2539033570
NM_001008212.2(OPTN):c.98A>T (p.Asp33Val)

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