ClinVar Miner

List of variants reported as benign for Irido-corneo-trabecular dysgenesis by Illumina Laboratory Services, Illumina

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_153427.2(PITX2):c.-1385+12T>C rs140614517 0.00009
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_153427.2(PITX2):c.-485C>G rs2739200

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