ClinVar Miner

List of variants studied for uveal disorder by Genome-Nilou Lab

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.927+4C>A rs4922872 0.98610
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000274.4(OAT):c.1160-59C>T rs2459217 0.91650
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81410
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.45122
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000186.4(CFH):c.59-36C>T rs551397 0.40527
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_014444.5(TUBGCP4):c.1280-24T>C rs999026 0.28568
NM_000274.4(OAT):c.199+19C>T rs10794058 0.27706
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_014444.5(TUBGCP4):c.1014+15G>A rs4608311 0.26487
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000390.4(CHM):c.351A>G (p.Ala117=) rs10217950 0.17011
NM_000274.4(OAT):c.901-22T>C rs17619406 0.15809
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_017583.6(TRIM44):c.670-27G>C rs3740798 0.13698
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys) rs5771107 0.12667
NM_017583.6(TRIM44):c.*23A>G rs61881297 0.12522
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_020461.4(TUBGCP6):c.4821+20G>A rs11912397 0.11469
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000186.4(CFH):c.1111C>A (p.His371Asn) rs145650378 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00032
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.764G>A (p.Gly255Glu) rs771112278 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.1745G>A (p.Arg582His) rs138890387 0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val) rs990484984 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) rs1408179720 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) rs1408795010 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) rs761877050 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His) rs748692496 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) rs1064795727
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864

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