ClinVar Miner

List of variants reported as benign for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
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_153426.3(PITX2):c.46+8_46+9insTT rs571056388 0.01006
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
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_001453.3(FOXC1):c.1050C>T (p.Leu350=) rs767285866 0.00177
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_001453.3(FOXC1):c.207G>T (p.Pro69=) rs35974174 0.00112
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_000325.6(PITX2):c.206-9C>T rs367757020 0.00046
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00016
NM_001453.3(FOXC1):c.279C>T (p.Asn93=) rs141798688 0.00012
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_001204398.1(PITX2):c.-11+12T>C rs140614517 0.00009
NM_001453.3(FOXC1):c.333C>T (p.Arg111=) rs547414473 0.00001
NM_001453.3(FOXC1):c.600G>C (p.Gln200His) rs549370363 0.00001
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del) rs747574884
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
NM_001453.3(FOXC1):c.573C>T (p.Leu191=) rs545282380
NM_001453.3(FOXC1):c.639G>T (p.Ala213=)
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-485C>G rs2739200

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.