ClinVar Miner

List of variants studied for Glaucoma 3A by Illumina Laboratory Services, Illumina

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.77104
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.51264
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.34767
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28148
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18385
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_000104.4(CYP1B1):c.*2371T>C rs9309020 0.02296
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02257
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_000104.4(CYP1B1):c.*926A>C rs9341261 0.01416
NM_000104.4(CYP1B1):c.*2158T>C rs112948057 0.01047
NM_000104.4(CYP1B1):c.*2261A>C rs77534033 0.00985
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.-2G>A rs9341245 0.00340
NM_000104.4(CYP1B1):c.*1853G>T rs9341265 0.00338
NM_000104.4(CYP1B1):c.*981T>C rs9341262 0.00336
NM_000104.4(CYP1B1):c.*1062G>T rs185371002 0.00275
NM_000104.4(CYP1B1):c.*2349G>A rs9341268 0.00257
NM_000104.4(CYP1B1):c.*3024T>C rs532039339 0.00257
NM_000104.4(CYP1B1):c.*2207G>A rs9341267 0.00244
NM_000104.4(CYP1B1):c.*118C>G rs1799885 0.00226
NM_000104.4(CYP1B1):c.*1460A>G rs137915099 0.00198
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) rs4987137 0.00191
NM_000104.4(CYP1B1):c.*1908G>A rs34544682 0.00177
NM_000104.4(CYP1B1):c.*380G>A rs35007750 0.00133
NM_000104.4(CYP1B1):c.*1056G>C rs187540802 0.00121
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) rs141245683 0.00117
NM_000104.4(CYP1B1):c.*466G>A rs9341260 0.00116
NM_000104.4(CYP1B1):c.*1938G>A rs570132783 0.00085
NM_000104.4(CYP1B1):c.*1075G>C rs77105857 0.00054
NM_000104.4(CYP1B1):c.*1746T>C rs34169771 0.00053
NM_000104.4(CYP1B1):c.*115G>A rs555706078 0.00046
NM_000104.4(CYP1B1):c.-84T>C rs886055999 0.00040
NM_000104.4(CYP1B1):c.*1781T>C rs750990195 0.00035
NM_000104.4(CYP1B1):c.*980A>C rs34521017 0.00032
NM_000104.4(CYP1B1):c.*1561A>C rs34474461 0.00029
NM_000104.4(CYP1B1):c.*1683A>G rs189809220 0.00028
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00027
NM_000104.4(CYP1B1):c.*864T>C rs987237179 0.00022
NM_000104.4(CYP1B1):c.*1798T>G rs900163227 0.00019
NM_000104.4(CYP1B1):c.*2760C>A rs375588205 0.00018
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp) rs368249322 0.00015
NM_000104.4(CYP1B1):c.*1269T>A rs570388762 0.00013
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) rs148461905 0.00013
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) rs148542782 0.00013
NM_000104.4(CYP1B1):c.*1141A>G rs759611970 0.00011
NM_000104.4(CYP1B1):c.*917G>A rs3755026 0.00011
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00009
NM_000104.4(CYP1B1):c.*233A>G rs9341259 0.00008
NM_000104.4(CYP1B1):c.-80C>G rs894434388 0.00008
NM_000104.4(CYP1B1):c.*1491G>T rs562799717 0.00007
NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys) rs771737035 0.00007
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) rs780375338 0.00007
NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser) rs377210850 0.00006
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val) rs72549383 0.00006
NM_000104.4(CYP1B1):c.*2597A>G rs746236755 0.00005
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=) rs775908245 0.00005
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=) rs748708268 0.00005
NM_000104.4(CYP1B1):c.*1346A>G rs960122791 0.00004
NM_000104.4(CYP1B1):c.*2209A>G rs949462503 0.00004
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu) rs769402060 0.00004
NM_000104.4(CYP1B1):c.*105C>T rs756083290 0.00003
NM_000104.4(CYP1B1):c.*2499T>C rs886055988 0.00003
NM_000104.4(CYP1B1):c.*1611G>A rs572531079 0.00002
NM_000104.4(CYP1B1):c.*43C>T rs371252753 0.00002
NM_000104.4(CYP1B1):c.*945C>T rs1327335898 0.00002
NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn) rs372685881 0.00002
NM_000104.4(CYP1B1):c.*1079C>G rs886055994 0.00001
NM_000104.4(CYP1B1):c.*1601C>T rs886055992 0.00001
NM_000104.4(CYP1B1):c.*1730A>G rs886055991 0.00001
NM_000104.4(CYP1B1):c.*1895C>T rs886055990 0.00001
NM_000104.4(CYP1B1):c.*1910A>G rs1405956907 0.00001
NM_000104.4(CYP1B1):c.*1956A>G rs1235898139 0.00001
NM_000104.4(CYP1B1):c.*2289G>T rs1682355981 0.00001
NM_000104.4(CYP1B1):c.*2498T>C rs572548236 0.00001
NM_000104.4(CYP1B1):c.*3086T>A rs969140341 0.00001
NM_000104.4(CYP1B1):c.*661T>A rs886055995 0.00001
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg) rs886055997 0.00001
NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln) rs747324108 0.00001
NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn) rs776848093 0.00001
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=) rs142995558 0.00001
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser) rs1156997078 0.00001
NM_000104.4(CYP1B1):c.381C>T (p.Ser127=) rs780857657 0.00001
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=) rs775055418 0.00001
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299 0.00001
NM_000104.4(CYP1B1):c.*1450T>C rs886055993
NM_000104.4(CYP1B1):c.*1544G>A rs1682376790
NM_000104.4(CYP1B1):c.*1766G>A rs1682371906
NM_000104.4(CYP1B1):c.*1961G>C rs767403314
NM_000104.4(CYP1B1):c.*2304A>C rs909259463
NM_000104.4(CYP1B1):c.*2660T>A rs886055987
NM_000104.4(CYP1B1):c.*3064A>T rs1682335231
NM_000104.4(CYP1B1):c.*3078G>A rs886055986
NM_000104.4(CYP1B1):c.*493G>A rs886055996
NM_000104.4(CYP1B1):c.*688T>C rs1682396717
NM_000104.4(CYP1B1):c.*972T>C rs1682390062
NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr) rs149049138
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg) rs901961745
NM_000104.4(CYP1B1):c.371G>A (p.Arg124His) rs1177366364
NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr) rs72549384
NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys) rs1682493984
NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser) rs1381317977

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