ClinVar Miner

List of variants reported as uncertain significance for corneal disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_002353.3(TACSTD2):c.-56C>G rs774270086 0.00061
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) rs138262189 0.00042
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) rs752572521 0.00020
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_198252.3(GSN):c.1538G>A (p.Arg513His) rs148410442 0.00014
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) rs368537807 0.00012
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) rs151155909 0.00009
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly) rs141965945 0.00007
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) rs138341672 0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) rs774085705 0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) rs371320840 0.00006
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met) rs375323203 0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) rs375902120 0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) rs1220983184 0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) rs148360076 0.00004
NM_198252.3(GSN):c.513+1G>A rs138677601 0.00004
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) rs781764487 0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) rs368079865 0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) rs370997492 0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) rs766055612 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) rs1468193571 0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=) rs199681748 0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) rs998869731 0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) rs368207411 0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) rs757684181 0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His) rs896776181 0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) rs545428148 0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) rs367933536 0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=) rs765499763 0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) rs376060588 0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val) rs754268709 0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr) rs770943559 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) rs761334580 0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) rs1157815026 0.00001
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys) rs745660697
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_198252.3(GSN):c.-9-1999_-9-1985del rs751499422
NM_198252.3(GSN):c.-9-2043C>G rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037del rs762432847
NM_198252.3(GSN):c.-9-2057_-9-2037dup rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup rs1371504521
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) rs146365204
NM_198252.3(GSN):c.1850G>A (p.Arg617His) rs9696578
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) rs2133938132
NM_198252.3(GSN):c.2137del (p.Asp713fs) rs750858951
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) rs138153246
NM_198252.3(GSN):c.397G>A (p.Val133Met) rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu) rs368197143
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) rs1355688870
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) rs756193920
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) rs751431867

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.