ClinVar Miner

List of variants reported as benign for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 619
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=) rs1529978 0.99487
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn) rs10932258 0.99262
NM_024915.4(GRHL2):c.-24C>G rs515622 0.98894
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_001367624.2(ZNF469):c.*788G>A rs3894713 0.98791
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=) rs2476958 0.98672
NM_021615.5(CHST6):c.*1967C>T rs42967 0.97576
NM_015040.4(PIKFYVE):c.*209G>C rs10208295 0.93103
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=) rs2118297 0.93088
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser) rs893253 0.92807
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys) rs1529979 0.92765
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=) rs10932259 0.92756
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu) rs893254 0.92740
NM_015040.4(PIKFYVE):c.5435-47A>G rs994696 0.92719
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=) rs994697 0.92712
NM_015040.4(PIKFYVE):c.*128G>T rs10208191 0.92697
NM_015040.4(PIKFYVE):c.5028-8G>A rs2304544 0.92690
NM_015040.4(PIKFYVE):c.1321-42C>T rs893256 0.92654
NM_000494.4(COL17A1):c.1465+48A>G rs805696 0.92652
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_207352.4(CYP4V2):c.*1781A>C rs6842047 0.89083
NM_207352.4(CYP4V2):c.*725C>T rs10033577 0.89040
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_198252.3(GSN):c.1417-22T>C rs306769 0.85170
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser) rs805698 0.84905
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_012293.3(PXDN):c.4206+79G>A rs6742040 0.84241
NM_021615.5(CHST6):c.*5286A>T rs9923834 0.82602
NM_207352.4(CYP4V2):c.*741C>T rs10033581 0.81342
NM_198252.3(GSN):c.1763-34G>A rs306771 0.80923
NM_001367624.2(ZNF469):c.*1001A>G rs3848234 0.80892
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_012293.3(PXDN):c.1567+67C>T rs12475392 0.75111
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val) rs805722 0.72600
NM_000494.4(COL17A1):c.3278-9C>G rs2274098 0.72589
NM_001174089.2(SLC4A11):c.1415+97T>G rs3810561 0.72417
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=) rs2274100 0.72299
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=) rs4918079 0.71960
NM_000494.4(COL17A1):c.3208+16C>T rs2282437 0.71950
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=) rs2296219 0.71801
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=) rs2304545 0.70349
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_021615.5(CHST6):c.*5445G>A rs10871313 0.66442
NM_001174089.2(SLC4A11):c.44-400C>G rs3810562 0.65483
NM_001400277.1(SLC4A11):c.-15+100T>C rs6107260 0.65355
NM_021220.4(OVOL2):c.512-4T>G rs2281543 0.64769
NM_007035.4(KERA):c.69G>A (p.Val23=) rs2735333 0.64254
NM_005202.4(COL8A2):c.193+34C>T rs274754 0.62904
NM_001174089.2(SLC4A11):c.1489+141T>C rs6139039 0.62765
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.62273
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272 0.60911
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met) rs805708 0.59454
NM_021615.5(CHST6):c.*242_*243insG rs11436257 0.58387
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=) rs805701 0.56681
NM_021615.5(CHST6):c.*3819G>C rs8063068 0.54358
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_021615.5(CHST6):c.*1919C>T rs7194035 0.52511
NM_021615.5(CHST6):c.*2024C>G rs7193828 0.52124
NM_021615.5(CHST6):c.*4305T>C rs11641249 0.51737
NM_001174089.2(SLC4A11):c.729+140C>A rs2144771 0.50909
NM_021615.5(CHST6):c.*1566T>G rs4888432 0.50768
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47552
NM_021615.5(CHST6):c.*3742C>T rs56116092 0.47041
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_207352.4(CYP4V2):c.*1236A>T rs1053094 0.45426
NM_001174089.2(SLC4A11):c.44-121G>C rs3827076 0.44987
NM_002353.3(TACSTD2):c.*280T>C rs3551 0.44624
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_001174089.2(SLC4A11):c.1043-15A>C rs3803953 0.43502
NM_000494.4(COL17A1):c.2398+19G>A rs813944 0.43385
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_207352.4(CYP4V2):c.-146C>T rs1398007 0.41622
NM_001174089.2(SLC4A11):c.2193-18C>T rs2281575 0.39893
NM_207352.4(CYP4V2):c.-152A>G rs2241819 0.39682
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=) rs4669 0.38557
NM_021615.5(CHST6):c.*4366T>C rs37606 0.38416
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_001174089.2(SLC4A11):c.88+189G>A rs4142381 0.37902
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_024915.4(GRHL2):c.*41G>A rs3735713 0.37317
NM_024915.4(GRHL2):c.1764-19C>T rs10093032 0.37291
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.36293
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_000358.3(TGFBI):c.651G>C (p.Leu217=) rs1442 0.36069
NM_012293.3(PXDN):c.200+35C>T rs62116430 0.35690
NM_000358.3(TGFBI):c.981A>G (p.Val327=) rs1054124 0.35276
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_014588.6(VSX1):c.546A>G (p.Ala182=) rs12480307 0.29623
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser) rs11650915 0.28816
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly) rs17116350 0.28157
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=) rs1133170 0.27861
NM_001174089.2(SLC4A11):c.89-8G>T rs3803957 0.27831
NM_002353.3(TACSTD2):c.*637G>A rs7333 0.26328
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_001174089.2(SLC4A11):c.730-31T>C rs540847946 0.22407
NM_001174089.2(SLC4A11):c.730-29_730-28insC rs147477986 0.22402
NM_001174089.2(SLC4A11):c.292-86G>C rs6139040 0.20545
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_001174089.2(SLC4A11):c.88+201A>C rs6037508 0.19777
NM_021615.5(CHST6):c.*2327C>T rs185053 0.19705
NM_001174089.2(SLC4A11):c.730-29T>A rs573322136 0.19676
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_001174089.2(SLC4A11):c.729+34G>A rs3803955 0.17603
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) rs3803956 0.17522
NM_001174089.2(SLC4A11):c.2389-9C>T rs41281858 0.17452
NM_013319.3(UBIAD1):c.*904T>C rs3765906 0.16890
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_014588.6(VSX1):c.627+23G>A rs6138482 0.15837
NM_207352.4(CYP4V2):c.*2399C>T rs56413992 0.15680
NM_033004.4(NLRP1):c.114G>C (p.Ser38=) rs884367 0.15491
NM_021615.5(CHST6):c.*4086G>A rs12918234 0.15036
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_002353.3(TACSTD2):c.*202A>G rs41313363 0.14784
NM_002353.3(TACSTD2):c.-54A>C rs232835 0.14512
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu) rs14008 0.14507
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala) rs999890 0.13441
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=) rs999891 0.13429
NM_002353.3(TACSTD2):c.*421A>G rs9583 0.12260
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala) rs35075952 0.12227
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_015040.4(PIKFYVE):c.*1262T>G rs6725527 0.10055
NM_015040.4(PIKFYVE):c.*2173C>T rs11538998 0.09994
NM_013319.3(UBIAD1):c.*1304C>T rs17036631 0.09921
NM_001174089.2(SLC4A11):c.1283-11C>T rs41281862 0.09711
NM_012293.3(PXDN):c.4074-40A>G rs66753271 0.09593
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09317
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08722
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_012293.3(PXDN):c.1568-19C>G rs7588627 0.07897
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.07854
NM_002353.3(TACSTD2):c.*48G>A rs41311174 0.07841
NM_014588.6(VSX1):c.*453del rs11478193 0.07828
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149 0.07706
NM_207352.4(CYP4V2):c.*1148A>G rs10011736 0.07494
NM_013319.3(UBIAD1):c.*1532C>T rs77270119 0.07082
NM_198252.3(GSN):c.2115T>C (p.Phe705=) rs9102 0.07073
NM_001174089.2(SLC4A11):c.*34C>T rs6051657 0.06969
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_014588.6(VSX1):c.18G>T (p.Ser6=) rs8123716 0.06535
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_013319.3(UBIAD1):c.-47T>G rs72856992 0.05898
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) rs76463933 0.05893
NM_198252.3(GSN):c.1260C>T (p.Gly420=) rs2304393 0.05790
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_015040.4(PIKFYVE):c.*2281del rs56993638 0.05007
NM_015040.4(PIKFYVE):c.*2185C>G rs59149007 0.05003
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp) rs1062964 0.04957
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764 0.04735
NM_012293.3(PXDN):c.2661C>T (p.Ser887=) rs1863134 0.04731
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=) rs6752525 0.03782
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=) rs12121124 0.03674
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_021615.5(CHST6):c.*955C>T rs116535181 0.03535
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=) rs13020468 0.03491
NM_014588.6(VSX1):c.391C>A (p.Arg131Ser) rs6050307 0.03467
NM_014588.6(VSX1):c.*496A>G rs76499395 0.03452
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val) rs16840913 0.03433
NM_000358.3(TGFBI):c.*267C>A rs17169782 0.03306
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) rs2230287 0.03231
NM_015040.4(PIKFYVE):c.-160A>G rs34366347 0.03165
NM_015040.4(PIKFYVE):c.2191-15A>T rs16840942 0.03144
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=) rs36031854 0.03133
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=) rs35066043 0.03133
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) rs77681311 0.02987
NM_021615.5(CHST6):c.*2288T>G rs147960476 0.02929
NM_021615.5(CHST6):c.*3992T>C rs8063344 0.02920
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) rs115224458 0.02654
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val) rs114373153 0.02577
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_013319.3(UBIAD1):c.*148A>G rs11580061 0.02447
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_002353.3(TACSTD2):c.*226C>A rs80012655 0.02262
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=) rs35151677 0.02232
NM_014588.6(VSX1):c.315C>A (p.Asp105Glu) rs6115023 0.02185
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_000358.3(TGFBI):c.1411-3C>T rs11242308 0.02094
NM_001920.5(DCN):c.*51A>G rs1803343 0.02082
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=) rs41305979 0.02061
NM_021615.5(CHST6):c.*3828A>T rs56769615 0.02061
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_013319.3(UBIAD1):c.*1060G>A rs115210853 0.01873
NM_001920.5(DCN):c.282C>T (p.Thr94=) rs3138221 0.01829
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_001920.5(DCN):c.803C>T (p.Thr268Met) rs3138268 0.01757
NM_021615.5(CHST6):c.*1426C>A rs11861434 0.01725
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_015040.4(PIKFYVE):c.*2247A>G rs13391849 0.01573
NM_014588.6(VSX1):c.*745G>A rs6050301 0.01546
NM_021615.5(CHST6):c.*2956G>A rs11860278 0.01509
NM_013319.3(UBIAD1):c.*819G>A rs75287995 0.01442
NM_012293.3(PXDN):c.1182T>C (p.Ser394=) rs76057922 0.01411
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln) rs6723697 0.01353
NM_021615.5(CHST6):c.258A>C (p.Ala86=) rs61740901 0.01353
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_021615.5(CHST6):c.*5441C>T rs74742116 0.01333
NM_012293.3(PXDN):c.111G>C (p.Pro37=) rs140134102 0.01330
NM_014588.6(VSX1):c.339C>T (p.Gly113=) rs6037016 0.01324
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=) rs61976956 0.01306
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) rs11550199 0.01287
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=) rs35784095 0.01266
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_021615.5(CHST6):c.*377G>A rs138647317 0.01173
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=) rs117149938 0.01130
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_015040.4(PIKFYVE):c.*1978T>C rs535013196 0.01071
NM_014588.6(VSX1):c.*200G>T rs75590263 0.01070
NM_012293.3(PXDN):c.4321-16C>T rs113997519 0.01052
NM_000358.3(TGFBI):c.*458G>A rs7854 0.01047
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_021615.5(CHST6):c.120C>T (p.Arg40=) rs61740904 0.01016
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_013319.3(UBIAD1):c.-195G>A rs114907127 0.00966
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_002353.3(TACSTD2):c.-1C>A rs232836 0.00863
NM_198252.3(GSN):c.1239A>G (p.Thr413=) rs149375418 0.00861
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_021615.5(CHST6):c.768C>T (p.Ala256=) rs146465655 0.00857
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=) rs61731247 0.00844
NM_002353.3(TACSTD2):c.*166C>T rs7355042 0.00815
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe) rs114000606 0.00811
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His) rs79339739 0.00810
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_015040.4(PIKFYVE):c.*1098A>G rs147936107 0.00759
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
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_021615.5(CHST6):c.*5187T>G rs28710075 0.00653
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val) rs35920018 0.00652
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu) rs73910815 0.00635
NM_021615.5(CHST6):c.*3621A>G rs139900788 0.00630
NM_000358.3(TGFBI):c.816C>T (p.Asn272=) rs34334509 0.00623
NM_021615.5(CHST6):c.*606G>A rs117741124 0.00621
NM_021615.5(CHST6):c.465G>A (p.Arg155=) rs141905571 0.00619
NM_021615.5(CHST6):c.294C>G (p.Ser98=) rs118144424 0.00618
NM_012293.3(PXDN):c.1242G>A (p.Ala414=) rs111448491 0.00609
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_001920.5(DCN):c.424A>G (p.Lys142Glu) rs142752401 0.00605
NM_021615.5(CHST6):c.*2833T>G rs149981556 0.00595
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001920.5(DCN):c.703A>C (p.Arg235=) rs3138264 0.00551
NM_015040.4(PIKFYVE):c.-134C>T rs115543378 0.00541
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) rs79322931 0.00537
NM_015040.4(PIKFYVE):c.*1499T>G rs41295956 0.00527
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_015040.4(PIKFYVE):c.*3324A>G rs114476866 0.00500
NM_021615.5(CHST6):c.*991A>G rs142368532 0.00492
NM_001920.5(DCN):c.917T>C (p.Val306Ala) rs73358055 0.00491
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_001920.5(DCN):c.33A>G (p.Ala11=) rs141738168 0.00477
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met) rs111494864 0.00468
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_014588.6(VSX1):c.*104C>T rs148709299 0.00467
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu) rs147066927 0.00460
NM_001920.5(DCN):c.975G>A (p.Ser325=) rs80123678 0.00454
NM_013319.3(UBIAD1):c.*1564C>T rs111893018 0.00446
NM_013319.3(UBIAD1):c.*552G>A rs111991610 0.00446
NM_013319.3(UBIAD1):c.*420C>T rs112789142 0.00444
NM_198252.3(GSN):c.196+7C>T rs146379508 0.00444
NM_015040.4(PIKFYVE):c.*78T>C rs115754381 0.00425
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_014588.5(VSX1):c.-197G>A rs116022495 0.00408
NM_012293.3(PXDN):c.1380G>A (p.Pro460=) rs191647762 0.00406
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_012293.3(PXDN):c.1018+9C>T rs182152963 0.00400
NM_012293.3(PXDN):c.1113G>A (p.Pro371=) rs200996147 0.00399
NM_014588.6(VSX1):c.174G>T (p.Pro58=) rs141241716 0.00398
NM_021615.5(CHST6):c.*4155C>T rs114790233 0.00398
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_012293.3(PXDN):c.1680+19G>A rs201018276 0.00382
NM_198252.3(GSN):c.1680C>T (p.Ser560=) rs73660439 0.00379
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg) rs114755302 0.00371
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=) rs35944808 0.00370
NM_021615.5(CHST6):c.129G>A (p.Val43=) rs112939575 0.00366
NM_021615.5(CHST6):c.*3465T>C rs76471046 0.00364
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) rs9696578 0.00359
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg) rs183437633 0.00340
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=) rs113307594 0.00340
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=) rs61752190 0.00305
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_015040.4(PIKFYVE):c.173-11C>T rs4675744 0.00299
NM_014588.6(VSX1):c.432C>G (p.Asp144Glu) rs140122268 0.00286
NM_021615.5(CHST6):c.666C>T (p.Asn222=) rs148529501 0.00284
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=) rs189596398 0.00279
NM_012293.3(PXDN):c.1392C>T (p.Ile464=) rs61749582 0.00278
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala) rs139565761 0.00277
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly) rs61752191 0.00271
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=) rs114884145 0.00244
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_013319.3(UBIAD1):c.*467G>A rs112285480 0.00235
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg) rs148994064 0.00234
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln) rs181887079 0.00232
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_001920.5(DCN):c.212-6T>C rs191218249 0.00230
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=) rs149961653 0.00229
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=) rs146239645 0.00228
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_012293.3(PXDN):c.1176G>T (p.Thr392=) rs140056124 0.00223
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_021615.5(CHST6):c.*3750C>A rs142693604 0.00220
NM_021615.5(CHST6):c.130C>T (p.Leu44=) rs140675009 0.00219
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=) rs367547260 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) rs372463004 0.00204
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_012293.3(PXDN):c.4207-6C>T rs117207020 0.00190
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_012293.3(PXDN):c.488+8G>C rs142878073 0.00184
NM_001368894.2(PAX6):c.1075-275A>C rs3026392 0.00180
NM_014588.6(VSX1):c.*199G>A rs145201675 0.00178
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys) rs138443305 0.00176
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_013319.3(UBIAD1):c.*18C>T rs191663672 0.00162
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_013319.3(UBIAD1):c.*684C>A rs375520410 0.00151
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=) rs533300920 0.00145
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln) rs146158348 0.00139
NM_015040.4(PIKFYVE):c.*1923A>G rs151104146 0.00138
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=) rs140774753 0.00134
NM_015040.4(PIKFYVE):c.*2693A>G rs564043919 0.00126
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=) rs61752185 0.00125
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
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_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=) rs61752187 0.00108
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
NM_021615.5(CHST6):c.993G>T (p.Gln331His) rs140699573 0.00101
NM_012293.3(PXDN):c.2283C>T (p.Thr761=) rs201654539 0.00098
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
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_015040.4(PIKFYVE):c.2535T>C (p.Ser845=) rs138885638 0.00088
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_021615.5(CHST6):c.828G>A (p.Leu276=) rs140327212 0.00085
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=) rs146556775 0.00080
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=) rs145498570 0.00076
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_015040.4(PIKFYVE):c.2331+12T>A rs188586992 0.00075
NM_012293.3(PXDN):c.969C>T (p.Ala323=) rs61746899 0.00074
NM_014588.6(VSX1):c.628-4C>T rs181156458 0.00073
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=) rs149763308 0.00068
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) rs200276592 0.00066
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_012293.3(PXDN):c.1347C>T (p.Thr449=) rs184142208 0.00063
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) rs147554026 0.00058
NM_014588.6(VSX1):c.474C>G (p.Thr158=) rs199995626 0.00057
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) rs144434647 0.00057
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr) rs148555720 0.00056
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=) rs147976705 0.00054
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=) rs144382074 0.00051
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr) rs79173362 0.00051
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met) rs539550777 0.00049
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp) rs188498825 0.00049
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_012293.3(PXDN):c.3165C>T (p.Pro1055=) rs75454260 0.00046
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln) rs142263208 0.00044
NM_012293.3(PXDN):c.921A>G (p.Thr307=) rs117914830 0.00043
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) rs146956976 0.00041
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
NM_012293.3(PXDN):c.270A>G (p.Thr90=) rs147536472 0.00036
NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val) rs140612649 0.00036
NM_014588.6(VSX1):c.81C>T (p.Arg27=) rs566762847 0.00036
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=) rs61752188 0.00036
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=) rs149005796 0.00036
NM_001368894.2(PAX6):c.978C>T (p.Gly326=) rs115833025 0.00035
NM_013319.3(UBIAD1):c.837C>T (p.Cys279=) rs201111281 0.00035
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) rs58750568 0.00033
NM_014588.6(VSX1):c.*744C>A rs139744143 0.00032
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala) rs139991374 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_014588.6(VSX1):c.528G>A (p.Leu176=) rs143099682 0.00029
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) rs141510612 0.00029
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys) rs748126365 0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_015040.4(PIKFYVE):c.*2143G>C rs184529823 0.00026
NM_198252.3(GSN):c.1563C>T (p.Ser521=) rs140414249 0.00026
NM_198252.3(GSN):c.1098G>A (p.Val366=) rs201325199 0.00025
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) rs139832048 0.00025
NM_014588.6(VSX1):c.497G>A (p.Arg166Gln) rs150297220 0.00024
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) rs151054868 0.00021
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser) rs144573813 0.00021
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His) rs146673873 0.00021
NM_198252.3(GSN):c.-9-1967C>T rs372837702 0.00020
NM_198252.3(GSN):c.1421G>A (p.Arg474His) rs142828669 0.00019
NM_001920.5(DCN):c.529A>T (p.Ile177Phe) rs201430261 0.00016
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val) rs144852646 0.00016
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val) rs137922460 0.00016
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly) rs567372749 0.00016
NM_198252.3(GSN):c.754-11C>T rs374057474 0.00016
NM_013319.3(UBIAD1):c.*1671G>A rs544393884 0.00014
NM_198252.3(GSN):c.1191+4C>T rs372713895 0.00014
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) rs186563338 0.00013
NM_198252.3(GSN):c.1170C>T (p.Asp390=) rs147583697 0.00013
NM_001920.5(DCN):c.671C>T (p.Thr224Met) rs144174426 0.00012
NM_014588.6(VSX1):c.717G>A (p.Gly239=) rs141410824 0.00012
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=) rs78290542 0.00011
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=) rs148810695 0.00011
NM_015040.4(PIKFYVE):c.5434+12A>T rs182134444 0.00011
NM_198252.3(GSN):c.2046G>A (p.Thr682=) rs747385746 0.00011
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser) rs281865145 0.00010
NM_001920.5(DCN):c.*105G>A rs191434778 0.00010
NM_001204398.1(PITX2):c.-11+12T>C rs140614517 0.00009
NM_014588.6(VSX1):c.60C>T (p.Gly20=) rs776758064 0.00009
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=) rs199542979 0.00009
NM_021615.5(CHST6):c.15C>T (p.Arg5=) rs762744897 0.00009
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=) rs936296523 0.00007
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile) rs145916346 0.00007
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) rs371175865 0.00007
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_198252.3(GSN):c.1191+14G>A rs377308627 0.00006
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln) rs2289170 0.00005
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) rs766945413 0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_013319.3(UBIAD1):c.370C>A (p.Arg124=) rs748615089 0.00004
NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=) rs377764711 0.00004
NM_014588.6(VSX1):c.628-13T>C rs775616468 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_015040.4(PIKFYVE):c.*3100T>G rs539067320 0.00003
NM_015040.4(PIKFYVE):c.1051-10G>T rs769292195 0.00003
NM_015040.4(PIKFYVE):c.3719+14C>A rs765598840 0.00003
NM_198252.3(GSN):c.1443C>T (p.Pro481=) rs200156774 0.00003
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_015040.4(PIKFYVE):c.*2738A>G rs553290241 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_001367624.2(ZNF469):c.10573G>A (p.Glu3525Lys) rs273585628 0.00001
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys) rs273585622 0.00001
NM_001368894.2(PAX6):c.243A>G (p.Arg81=) rs771974160 0.00001
NM_015040.4(PIKFYVE):c.*1938G>C rs140749141 0.00001
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala) rs566701537 0.00001
NM_015040.4(PIKFYVE):c.4811-9T>C rs148173811 0.00001
NM_015040.4(PIKFYVE):c.4932-13A>C rs186801100 0.00001
NM_021615.5(CHST6):c.*5465C>T rs541989548 0.00001
NM_198252.3(GSN):c.1009C>T (p.Leu337=) rs528161256 0.00001
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) rs556563870 0.00001
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) rs777767455 0.00001
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000494.4(COL17A1):c.979+27T>A rs805704
NM_001174089.2(SLC4A11):c.291+126G>A rs6133022
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.2(ZNF469):c.*618T>G rs3859020
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.2643C>G (p.Ser881=) rs273585635
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.3320G>A (p.Arg1107Gln) rs281865148
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.4910G>C (p.Arg1637Pro) rs273585621
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=) rs548774131
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly) rs1457868844
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001368894.2(PAX6):c.724+14del rs772158967
NM_001920.5(DCN):c.*160C>T rs7441
NM_001920.5(DCN):c.*377T>C rs35379812
NM_002353.2(TACSTD2):c.-169G>A rs61779294
NM_002353.3(TACSTD2):c.*565G>T rs528472691
NM_005202.4(COL8A2):c.*12G>T rs3738360
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_013319.3(UBIAD1):c.*1817_*1820del rs371474267
NM_013319.3(UBIAD1):c.*48A>G rs368504935
NM_013319.3(UBIAD1):c.*969_*970insTTTG rs3063961
NM_014588.5(VSX1):c.-274_-270GGGGT[2] rs144366921
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014588.6(VSX1):c.612C>T (p.Pro204=) rs200369946
NM_014588.6(VSX1):c.809-6dup rs11427085
NM_015040.4(PIKFYVE):c.*210G>A rs77542967
NM_015040.4(PIKFYVE):c.*2549G>A rs16841092
NM_015040.4(PIKFYVE):c.*3102_*3104dup rs10622340
NM_015040.4(PIKFYVE):c.*3304TGTAT[1] rs71968755
NM_015040.4(PIKFYVE):c.2191-6A>T rs758552809
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser) rs2363468
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=) rs147789704
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_021220.4(OVOL2):c.511+7G>A rs1571431
NM_021615.5(CHST6):c.*1047G>T rs77687996
NM_021615.5(CHST6):c.*1058G>A rs137868909
NM_021615.5(CHST6):c.*1375G>A rs116020927
NM_021615.5(CHST6):c.*1892del rs35225560
NM_021615.5(CHST6):c.*3223CT[1] rs5817947
NM_021615.5(CHST6):c.*4605C>T rs150105169
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly) rs117435647
NM_153427.2(PITX2):c.-485C>G rs2739200
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) rs142034230
NM_198252.3(GSN):c.231C>A (p.Ala77=) rs140734150
NM_207352.4(CYP4V2):c.*364T>G rs7697077

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