ClinVar Miner

List of variants reported as likely benign for corneal disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.*845T>C rs7187709 0.13371
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_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_207352.4(CYP4V2):c.*1638G>A rs72646300 0.07687
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_001367624.2(ZNF469):c.*907G>A rs1048192 0.06751
NM_001367624.2(ZNF469):c.*921_*922insG rs11382974 0.06632
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_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05831
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
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_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_000104.4(CYP1B1):c.*2371T>C rs9309020 0.02296
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
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_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372 0.01952
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_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_000104.4(CYP1B1):c.*926A>C rs9341261 0.01416
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01209
NM_021615.5(CHST6):c.-78T>C rs114012239 0.01207
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_001174089.2(SLC4A11):c.*225C>T rs77978636 0.01139
NM_000104.4(CYP1B1):c.*2158T>C rs112948057 0.01121
NM_207352.4(CYP4V2):c.-128A>G rs531909464 0.01113
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_015040.4(PIKFYVE):c.*1973_*1974insA rs199859183 0.01071
NM_207352.4(CYP4V2):c.*2106G>T rs72646302 0.01061
NM_021615.5(CHST6):c.*2955C>T rs76087215 0.01047
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_000104.4(CYP1B1):c.*2261A>C rs77534033 0.00985
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_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_021615.5(CHST6):c.*3883T>G rs138114811 0.00736
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121 0.00632
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_000358.3(TGFBI):c.1486C>G (p.Arg496Gly) rs10057190 0.00561
NM_015040.4(PIKFYVE):c.-166A>T rs530975785 0.00555
NM_002353.3(TACSTD2):c.*396T>C rs41313365 0.00488
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001920.4(DCN):c.-325A>G rs147956869 0.00432
NM_000358.3(TGFBI):c.2012-5T>C rs147650812 0.00405
NM_021615.5(CHST6):c.*2426T>C rs142614349 0.00365
NM_000104.4(CYP1B1):c.*1853G>T rs9341265 0.00338
NM_014588.6(VSX1):c.731A>G (p.His244Arg) rs148957473 0.00310
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_021615.5(CHST6):c.*1914A>G rs143764747 0.00259
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_021615.5(CHST6):c.*3917G>A rs180746384 0.00250
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_021615.5(CHST6):c.130C>T (p.Leu44=) rs140675009 0.00219
NM_021615.5(CHST6):c.*2947G>T rs112154704 0.00217
NM_021615.5(CHST6):c.*2210C>G rs111315694 0.00216
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_001330349.2(UBIAD1):c.618+2704C>T rs573522173 0.00172
NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr) rs202066916 0.00139
NM_000358.3(TGFBI):c.1377C>T (p.Gly459=) rs190191005 0.00122
NM_002353.3(TACSTD2):c.*751C>A rs570481691 0.00113
NM_000358.3(TGFBI):c.1749C>T (p.Ile583=) rs35909506 0.00104
NM_021615.5(CHST6):c.*4880G>A rs76741848 0.00104
NM_014588.5(VSX1):c.-289C>G rs575314822 0.00097
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_002353.3(TACSTD2):c.*98C>T rs72672295 0.00086
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_021615.5(CHST6):c.*2417C>T rs188632926 0.00080
NM_002353.3(TACSTD2):c.762G>A (p.Glu254=) rs144787622 0.00079
NM_001920.4(DCN):c.-249A>G rs189853358 0.00078
NM_000358.3(TGFBI):c.1992C>T (p.Ser664=) rs199781494 0.00064
NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe) rs199852470 0.00058
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_002353.2(TACSTD2):c.-314G>A rs546965754 0.00030
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_001920.5(DCN):c.54G>A (p.Pro18=) rs145597441 0.00029
NM_015040.4(PIKFYVE):c.-10+5G>A rs541362896 0.00026
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His) rs767989671 0.00021
NM_021615.5(CHST6):c.*5197C>T rs554016597 0.00021
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_001920.5(DCN):c.621T>G (p.Ile207Met) rs373676217 0.00014
NM_014588.6(VSX1):c.50T>C (p.Leu17Pro) rs74315436 0.00014
NM_021615.5(CHST6):c.*1118A>G rs191429909 0.00014
NM_021615.5(CHST6):c.*435C>T rs375230497 0.00013
NM_015040.4(PIKFYVE):c.2459-10T>C rs751439088 0.00008
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly) rs376604887 0.00008
NM_198252.3(GSN):c.126C>T (p.Asp42=) rs200027070 0.00007
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=) rs376848818 0.00006
NM_014588.6(VSX1):c.475T>A (p.Leu159Met) rs74315434 0.00006
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) rs750132751 0.00006
NM_207352.4(CYP4V2):c.*2303G>C rs576134216 0.00006
NM_014588.6(VSX1):c.*3C>A rs201807082 0.00005
NM_001920.4(DCN):c.-296C>T rs540013218 0.00004
NM_001920.5(DCN):c.879C>T (p.Tyr293=) rs144307891 0.00004
NM_001920.5(DCN):c.944C>A (p.Pro315His) rs777270608 0.00004
NM_014588.6(VSX1):c.452A>G (p.Asn151Ser) rs201716527 0.00004
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro) rs373802805 0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) rs142854368 0.00004
NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp) rs201583978 0.00003
NM_015040.4(PIKFYVE):c.1468+15C>T rs781345811 0.00003
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln) rs377372888 0.00003
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=) rs746132026 0.00003
NM_001920.5(DCN):c.1066G>A (p.Gly356Arg) rs775666283 0.00002
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=) rs745795722 0.00002
NM_021615.5(CHST6):c.*1377G>A rs140231054 0.00002
NM_198252.3(GSN):c.723G>A (p.Ala241=) rs377624593 0.00002
NM_000358.3(TGFBI):c.*395C>A rs558406262 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg) rs761963387 0.00001
NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn) rs764215999 0.00001
NM_198252.3(GSN):c.123C>T (p.Gly41=) rs774617795 0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) rs770023727 0.00001
NM_000358.3(TGFBI):c.1265-11C>T rs145873615
NM_000358.3(TGFBI):c.1584G>A (p.Thr528=) rs552261238
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001920.5(DCN):c.555G>T (p.Pro185=) rs147765043
NM_014588.6(VSX1):c.479G>T (p.Gly160Val) rs74315433
NM_014588.6(VSX1):c.740C>G (p.Pro247Arg) rs576300014
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=) rs147789704
NM_021615.5(CHST6):c.*3364C>A rs189970730
NM_021615.5(CHST6):c.*4487C>T rs182168641
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896

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