ClinVar Miner

List of variants reported as benign for anterior segment dysgenesis

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_012293.3(PXDN):c.4206+79G>A rs6742040 0.84241
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_012293.3(PXDN):c.1567+67C>T rs12475392 0.75111
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_005029.4(PITX3):c.285C>T (p.Ile95=) rs2281983 0.66644
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_012293.3(PXDN):c.200+35C>T rs62116430 0.35690
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_012293.3(PXDN):c.4074-40A>G rs66753271 0.09593
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_012293.3(PXDN):c.1568-19C>G rs7588627 0.07897
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_012293.3(PXDN):c.1946+6G>A rs73178792 0.05765
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
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_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
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_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
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_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_000325.6(PITX2):c.*471G>A rs75911264 0.01337
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_153427.2(PITX2):c.-392G>T rs113778706 0.01298
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_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
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_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_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_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
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_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
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_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
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_153427.2(PITX2):c.-967C>T rs368647502 0.00024
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_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
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_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=) rs78290542 0.00011
NM_001204398.1(PITX2):c.-11+12T>C rs140614517 0.00009
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
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_001368894.2(PAX6):c.724+14del rs772158967
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001453.3(FOXC1):c.-244C>T rs185790394
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.1408+164T>C rs890055
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
NM_012293.3(PXDN):c.4206+73G>C rs6742039
NM_012293.3(PXDN):c.4206+81A>G rs6729142
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-485C>G rs2739200

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