List of variants reported as benign for anterior segment dysgenesis by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012293.3(PXDN):c.3921A>G (p.Val1307=)	rs6730800	0.86660
NM_012293.3(PXDN):c.1836T>C (p.Asn612=)	rs17841813	0.71557
NM_012186.3(FOXE3):c.510C>T (p.Ala170=)	rs34082359	0.30139
NM_012293.3(PXDN):c.2892C>T (p.Asn964=)	rs3811613	0.25189
NM_019040.5(ELP4):c.*3998C>T	rs662702	0.14929
NM_012293.3(PXDN):c.3953-14T>C	rs7578605	0.09206
NM_012293.3(PXDN):c.1568-19C>G	rs7588627	0.07897
NM_001368894.2(PAX6):c.808-12C>T	rs667773	0.05916
NM_012293.3(PXDN):c.1946+6G>A	rs73178792	0.05765
NM_012293.3(PXDN):c.2661C>T (p.Ser887=)	rs1863134	0.04731
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=)	rs6752525	0.03782
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_001368894.2(PAX6):c.-129+9G>A	rs56139994	0.02711
NM_012293.3(PXDN):c.1182T>C (p.Ser394=)	rs76057922	0.01411
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)	rs566961335	0.01396
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)	rs6723697	0.01353
NM_012293.3(PXDN):c.111G>C (p.Pro37=)	rs140134102	0.01330
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=)	rs61976956	0.01306
NM_000325.6(PITX2):c.618T>G (p.Ser206=)	rs35946364	0.01175
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)	rs114384476	0.01168
NM_012293.3(PXDN):c.4321-16C>T	rs113997519	0.01052
NM_153427.3(PITX2):c.46+8C>G	rs199896960	0.01041
NM_012186.3(FOXE3):c.423G>A (p.Lys141=)	rs145081583	0.01025
NM_153426.3(PITX2):c.46+8_46+9insTT	rs571056388	0.01006
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn)	rs765169217	0.00868
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=)	rs61731247	0.00844
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)	rs61747868	0.00788
NM_012186.3(FOXE3):c.618C>G (p.Ala206=)	rs189628587	0.00737
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile)	rs61747875	0.00688
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)	rs115076385	0.00686
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu)	rs73910815	0.00635
NM_012293.3(PXDN):c.1242G>A (p.Ala414=)	rs111448491	0.00609
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met)	rs79322931	0.00537
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)	rs147066927	0.00460
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)	rs281865461	0.00458
NM_012293.3(PXDN):c.1380G>A (p.Pro460=)	rs191647762	0.00406
NM_012293.3(PXDN):c.1018+9C>T	rs182152963	0.00400
NM_012293.3(PXDN):c.1113G>A (p.Pro371=)	rs200996147	0.00399
NM_012293.3(PXDN):c.1680+19G>A	rs201018276	0.00382
NM_001453.3(FOXC1):c.502C>T (p.Leu168=)	rs148739656	0.00363
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)	rs552420470	0.00350
NM_012186.3(FOXE3):c.601G>A (p.Val201Met)	rs530072475	0.00329
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg)	rs75089353	0.00284
NM_012293.3(PXDN):c.1392C>T (p.Ile464=)	rs61749582	0.00278
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_012293.3(PXDN):c.1176G>T (p.Thr392=)	rs140056124	0.00223
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=)	rs372463004	0.00204
NM_012293.3(PXDN):c.4207-6C>T	rs117207020	0.00190
NM_012293.3(PXDN):c.488+8G>C	rs142878073	0.00184
NM_001368894.2(PAX6):c.1075-275A>C	rs3026392	0.00180
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=)	rs767285866	0.00177
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	rs141873759	0.00175
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)	rs202132697	0.00162
NM_000325.6(PITX2):c.819G>A (p.Pro273=)	rs148191851	0.00135
NM_012186.3(FOXE3):c.276C>T (p.Leu92=)	rs143712915	0.00134
NM_012293.3(PXDN):c.648G>A (p.Ala216=)	rs183196973	0.00115
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=)	rs147851300	0.00114
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_012293.3(PXDN):c.2283C>T (p.Thr761=)	rs201654539	0.00098
NM_012293.3(PXDN):c.531A>G (p.Thr177=)	rs577963506	0.00093
NM_012293.3(PXDN):c.2385G>A (p.Pro795=)	rs373265335	0.00091
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=)	rs147749489	0.00077
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	rs149053004	0.00075
NM_012293.3(PXDN):c.969C>T (p.Ala323=)	rs61746899	0.00074
NM_012293.3(PXDN):c.1656C>T (p.Pro552=)	rs200276592	0.00066
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)	rs571095192	0.00064
NM_012293.3(PXDN):c.1347C>T (p.Thr449=)	rs184142208	0.00063
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)	rs144382074	0.00051
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu)	rs534479543	0.00050
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	rs146261351	0.00048
NM_012293.3(PXDN):c.273G>A (p.Leu91=)	rs200915485	0.00048
NM_000325.6(PITX2):c.206-9C>T	rs367757020	0.00046
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)	rs75454260	0.00046
NM_012293.3(PXDN):c.921A>G (p.Thr307=)	rs117914830	0.00043
NM_001368894.2(PAX6):c.753G>A (p.Val251=)	rs145329506	0.00038
NM_012293.3(PXDN):c.270A>G (p.Thr90=)	rs147536472	0.00036
NM_000325.6(PITX2):c.862C>T (p.Leu288=)	rs139401187	0.00035
NM_001368894.2(PAX6):c.978C>T (p.Gly326=)	rs115833025	0.00035
NM_012186.3(FOXE3):c.234G>A (p.Ala78=)	rs201158701	0.00027
NM_012186.3(FOXE3):c.831C>T (p.Gly277=)	rs527783871	0.00025
NM_000325.6(PITX2):c.619A>G (p.Met207Val)	rs138163892	0.00023
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys)	rs151054868	0.00021
NM_001453.3(FOXC1):c.216G>A (p.Gln72=)	rs200040370	0.00016
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr)	rs186563338	0.00013
NM_001453.3(FOXC1):c.279C>T (p.Asn93=)	rs141798688	0.00012
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)	rs78290542	0.00011
NM_012186.3(FOXE3):c.135G>A (p.Ala45=)	rs886044273	0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)	rs202154006	0.00004
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)	rs200015827	0.00003
NM_001368894.2(PAX6):c.959-7C>T	rs750093295	0.00003
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)	rs771974160	0.00001
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_001368894.2(PAX6):c.724+14del	rs772158967
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_012293.3(PXDN):c.2640C>G (p.Arg880=)	rs79442404
NM_012293.3(PXDN):c.272+18A>G
NM_012293.3(PXDN):c.2730A>C (p.Ile910=)	rs1863135
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
NM_012293.3(PXDN):c.2821G>A (p.Val941Met)	rs189824177
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=)	rs147695468
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)	rs111450110

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.