ClinVar Miner

List of variants studied for chorioretinitis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81410
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.45122
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270 0.31375
NM_014444.5(TUBGCP4):c.1280-24T>C rs999026 0.28568
NM_014444.5(TUBGCP4):c.1014+15G>A rs4608311 0.26487
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys) rs5771107 0.12667
NM_020461.4(TUBGCP6):c.4821+20G>A rs11912397 0.11469
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394 0.07476
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00981
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=) rs879175668 0.00551
NM_014264.5(PLK4):c.2109C>A (p.Ile703=) rs74770705 0.00271
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=) rs139343360 0.00248
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu) rs149549954 0.00081
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00045
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr) rs200841925 0.00021
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) rs199582514 0.00010
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) rs543250835 0.00009
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His) rs183013671 0.00005
NM_020461.4(TUBGCP6):c.4351C>G (p.Leu1451Val) rs577375585 0.00005
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_020461.4(TUBGCP6):c.1983+4C>T rs749151104 0.00004
NM_020461.4(TUBGCP6):c.2657G>A (p.Gly886Glu) rs769027529 0.00004
NM_020461.4(TUBGCP6):c.3089C>T (p.Ser1030Leu) rs751897821 0.00004
NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp) rs764568631 0.00004
NM_020461.4(TUBGCP6):c.4626+4G>A rs771572928 0.00004
NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) rs138609686 0.00004
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236 0.00003
NM_020461.4(TUBGCP6):c.4208A>C (p.Glu1403Ala) rs753473295 0.00003
NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu) rs557715113 0.00002
NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=) rs771701036 0.00002
NM_014264.5(PLK4):c.160G>A (p.Val54Ile) rs771069245 0.00001
NM_014264.5(PLK4):c.1935+4A>T rs758425287 0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys) rs773200383 0.00001
NM_014264.5(PLK4):c.609A>G (p.Thr203=) rs564323488 0.00001
NM_014444.5(TUBGCP4):c.1597-11A>G rs1471253381 0.00001
NM_014444.5(TUBGCP4):c.889+2T>C rs772200785 0.00001
NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys) rs1282749907 0.00001
NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter) rs776065095 0.00001
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975 0.00001
NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro) rs750475050 0.00001
NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp) rs185642293 0.00001
NM_020461.4(TUBGCP6):c.3463C>T (p.Arg1155Trp) rs1457740942 0.00001
NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu) rs778863982 0.00001
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019 0.00001
NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala) rs755489573 0.00001
NG_042168.2:g.(35752_37583)_(39659_?)del
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
NM_014264.5(PLK4):c.1658del (p.Pro553fs)
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) rs1734999708
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_014264.5(PLK4):c.2562+1G>C rs1473460404
NM_014264.5(PLK4):c.2811-5C>G rs724159995
NM_014444.5(TUBGCP4):c.1380G>A (p.Trp460Ter) rs1595496969
NM_014444.5(TUBGCP4):c.1669C>T (p.Arg557Ter) rs755822321
NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs) rs794726856
NM_014444.5(TUBGCP4):c.346del (p.His116fs) rs1196276711
NM_014444.5(TUBGCP4):c.778C>T (p.Arg260Ter) rs755174583
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020461.4(TUBGCP6):c.1391A>G (p.Lys464Arg) rs774132550
NM_020461.4(TUBGCP6):c.1594T>C (p.Tyr532His)
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.1956C>T (p.Arg652=)
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) rs1422096763
NM_020461.4(TUBGCP6):c.2321G>A (p.Arg774Gln)
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.2789C>A (p.Pro930His)
NM_020461.4(TUBGCP6):c.2791C>T (p.Pro931Ser)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)
NM_020461.4(TUBGCP6):c.3452T>G (p.Val1151Gly)
NM_020461.4(TUBGCP6):c.3551G>A (p.Arg1184Gln)
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.3689C>G (p.Ser1230Trp) rs201398979
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.3868A>C (p.Thr1290Pro) rs2064499588
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.3914C>A (p.Ala1305Glu)
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) rs2064470709
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) rs748632851
NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
NM_020461.4(TUBGCP6):c.5206G>A (p.Val1736Ile) rs762939715
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5276del (p.Pro1759fs) rs746218503
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_020461.4(TUBGCP6):c.905+1G>C

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.