ClinVar Miner

List of variants studied for Primary open angle glaucoma by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
NM_001008212.2(OPTN):c.*1421T>G rs12415716 0.22947
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_139281.3(WDR36):c.*1044_*1045insG rs886059770 0.04125
NM_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
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.*1063C>A rs530046832 0.00131
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_001008212.2(OPTN):c.-250C>A rs886046818 0.00088
NM_001008212.2(OPTN):c.*461G>A rs541250740 0.00081
NM_001008212.2(OPTN):c.*1285T>C rs560947786 0.00057
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_001008212.2(OPTN):c.*1385T>C rs546352206 0.00017
NM_001008212.2(OPTN):c.*218G>C rs886046824 0.00006
NM_001008212.2(OPTN):c.*413G>A rs886046825 0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_001008212.2(OPTN):c.*1089G>A rs758812707 0.00005
NM_001008212.2(OPTN):c.-172G>A rs1453573477 0.00005
NM_001008212.2(OPTN):c.*1251C>G rs542617940 0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) rs201896586 0.00003
NM_001008212.2(OPTN):c.1243-13G>A rs374144660 0.00002
NM_001008212.2(OPTN):c.*1111A>C rs962236225 0.00001
NM_001008212.2(OPTN):c.*222G>C rs1451563043 0.00001
NM_001008212.2(OPTN):c.*306G>A rs538280633 0.00001
NM_001008212.2(OPTN):c.*335C>T rs1251482519 0.00001
NM_001008212.2(OPTN):c.-272G>T rs886046817 0.00001
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) rs1269604352 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008211.1(OPTN):c.-454C>T rs570587258
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*152G>T rs886046823
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*631A>G rs1833724733
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.-184C>G rs955585590
NM_001008212.2(OPTN):c.-9A>G rs779282676
NM_001008212.2(OPTN):c.1243-9C>A rs1833497674
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1532+10AG[3] rs374302388
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) rs1832936570
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) rs1832971194
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_021980.4(OPTN):c.-187G>T rs553169923
NM_021980.4(OPTN):c.-227G>T rs3814657
NM_021980.4(OPTN):c.-232G>T rs886046816
NM_139281.2(WDR36):c.*3631C>T rs565965136
NM_139281.3(WDR36):c.*1040_*1050del rs532039350
NM_139281.3(WDR36):c.*1061del rs886059771
NM_139281.3(WDR36):c.*1080dup rs200793653
NM_139281.3(WDR36):c.*2279CTT[1] rs886059780
NM_139281.3(WDR36):c.*2644del rs747448169
NM_139281.3(WDR36):c.*3598_*3602del rs886059792
NM_139281.3(WDR36):c.163-7dup rs201659734
NM_139281.3(WDR36):c.1717-11_1717-10del rs201180028
NM_139281.3(WDR36):c.1717-20_1717-14delinsATATATATA rs886059764
NM_139281.3(WDR36):c.1717-20_1717-14delinsATATATATATA rs886059764
NM_139281.3(WDR36):c.2538+8_2538+11dup rs886059766

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