ClinVar Miner

List of variants studied for Primary open angle glaucoma

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Total variants: 96
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HGVS dbSNP
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) rs878854408
NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) rs137854858
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) rs137854863
NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) rs137854865
NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=) rs137854866
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860
NM_001008211.1(OPTN):c.-382T>C rs71492279
NM_001008211.1(OPTN):c.-408G>T
NM_001008211.1(OPTN):c.-448G>T rs3814657
NM_001008211.1(OPTN):c.-453G>T rs886046816
NM_001008211.1(OPTN):c.-454C>T rs570587258
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*1063C>A rs530046832
NM_001008212.2(OPTN):c.*1089G>A rs758812707
NM_001008212.2(OPTN):c.*1111A>C
NM_001008212.2(OPTN):c.*1251C>G rs542617940
NM_001008212.2(OPTN):c.*1285T>C rs560947786
NM_001008212.2(OPTN):c.*1385T>C rs546352206
NM_001008212.2(OPTN):c.*1421T>G rs12415716
NM_001008212.2(OPTN):c.*152G>T rs886046823
NM_001008212.2(OPTN):c.*218G>C rs886046824
NM_001008212.2(OPTN):c.*222G>C
NM_001008212.2(OPTN):c.*269C>T rs111484304
NM_001008212.2(OPTN):c.*306G>A rs538280633
NM_001008212.2(OPTN):c.*335C>T
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*413G>A rs886046825
NM_001008212.2(OPTN):c.*461G>A rs541250740
NM_001008212.2(OPTN):c.*562T>G rs148646641
NM_001008212.2(OPTN):c.*631A>G
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001008212.2(OPTN):c.-172G>A
NM_001008212.2(OPTN):c.-184C>G
NM_001008212.2(OPTN):c.-215G>A rs11548142
NM_001008212.2(OPTN):c.-250C>A rs886046818
NM_001008212.2(OPTN):c.-255C>G rs2580915
NM_001008212.2(OPTN):c.-272G>T rs886046817
NM_001008212.2(OPTN):c.-274C>A rs552494483
NM_001008212.2(OPTN):c.-9A>G
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687
NM_001008212.2(OPTN):c.1243-13G>A rs374144660
NM_001008212.2(OPTN):c.1243-9C>A
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249
NM_001008212.2(OPTN):c.1532+10AG[3] rs374302388
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696
NM_001008212.2(OPTN):c.1612+10G>A rs191671333
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
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.425A>C (p.Gln142Pro) rs757411888
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008212.2(OPTN):c.553-10G>A rs11258210
NM_001008212.2(OPTN):c.553-5C>T rs2244380
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721
NM_001008212.2(OPTN):c.627-10T>C rs80327830
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_014550.4(CARD10):c.1024G>A (p.Val342Met) rs200148764
NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) rs750643216
NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) rs201794655
NM_014550.4(CARD10):c.635G>A (p.Arg212His) rs1057519378
NM_014550.4(CARD10):c.983C>T (p.Ala328Val) rs139006752
NM_139281.2(WDR36):c.*1040_*1050del rs532039350
NM_139281.2(WDR36):c.*1044_*1045insG rs886059770
NM_139281.2(WDR36):c.*1061del rs886059771
NM_139281.2(WDR36):c.*1080dup rs200793653
NM_139281.2(WDR36):c.*2282_*2284delCTT rs886059780
NM_139281.2(WDR36):c.*2644del rs747448169
NM_139281.2(WDR36):c.*3598_*3602del rs886059792
NM_139281.2(WDR36):c.*3631C>T rs565965136
NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) rs34661294
NM_139281.2(WDR36):c.1885-11_1885-10del rs201180028
NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATA rs886059764
NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATATA rs886059764
NM_139281.2(WDR36):c.2706+8_2706+11dup rs886059766
NM_139281.2(WDR36):c.331-7dup rs201659734
NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) rs35629723

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