ClinVar Miner

List of variants studied for corneal disorder by OMIM

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser) rs181958589 0.00124
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser) rs121909217 0.00103
NM_007035.4(KERA):c.740A>G (p.Asn247Ser) rs121917858 0.00045
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_014588.6(VSX1):c.50T>C (p.Leu17Pro) rs74315436 0.00014
NM_014588.6(VSX1):c.475T>A (p.Leu159Met) rs74315434 0.00006
NM_007035.4(KERA):c.835C>T (p.Arg279Ter) rs386833986 0.00004
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met) rs267607066 0.00003
NM_014588.6(VSX1):c.496C>T (p.Arg166Trp) rs74315432 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111 0.00002
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) rs121909210 0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) rs760714959 0.00001
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu) rs121909388 0.00001
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His) rs121909392 0.00001
NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter) rs80358223 0.00001
NM_007035.4(KERA):c.644C>A (p.Thr215Lys) rs121917862 0.00001
NM_007035.4(KERA):c.937C>T (p.Arg313Ter) rs121917863 0.00001
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter) rs369535598 0.00001
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys) rs587777572 0.00001
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu) rs397514669 0.00001
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg) rs121918336 0.00001
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110 0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys) rs72547544 0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) rs121917824 0.00001
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys) rs57872071 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NG_011716.2:g.54765TGC[51_?]
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp) rs58162394
NM_000223.4(KRT12):c.386T>C (p.Met129Thr) rs28936695
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro) rs886038212
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly) rs58410481
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr) rs57218384
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile) rs57218384
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg) rs58918655
NM_000223.4(KRT12):c.427G>C (p.Val143Leu) rs58343600
NM_000358.2(TGFBI):c.[1637C>A;1652C>A]
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg) rs121909216
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del) rs2126915359
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser) rs121909214
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp) rs121909215
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) rs121909210
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) rs121909211
NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile) rs797045142
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_001143981.2(CHRDL1):c.102_103del (p.Glu34fs) rs398122852
NM_001143981.2(CHRDL1):c.301+2T>G rs587776868
NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter) rs387906714
NM_001143981.2(CHRDL1):c.782G>T (p.Cys261Phe) rs387906713
NM_001143981.2(CHRDL1):c.807_808del (p.His270fs) rs863225435
NM_001143981.2(CHRDL1):c.872del (p.Cys291fs) rs398122851
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys) rs267607065
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp) rs121909389
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG rs869320617
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu) rs267607064
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln) rs121909387
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs) rs869320720
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs) rs1600618680
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter) rs2139794959
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) rs1592143384
NM_001303461.1(OVOL2):c.-297+886T>C rs869320628
NM_001303461.1(OVOL2):c.-297+895_-297+916dup rs869320627
NM_001303461.1(OVOL2):c.-297+949T>C rs869320629
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr) rs387907062
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter) rs387907063
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) rs1597210953
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs) rs2142314304
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) rs121907921
NM_001368894.2(PAX6):c.959-2A>T rs587776571
NM_001920.5(DCN):c.941del (p.Pro314fs) rs80338742
NM_001920.5(DCN):c.947del (p.Gly316fs) rs397515545
NM_001920.5(DCN):c.962del (p.Lys321fs) rs587777258
NM_001920.5(DCN):c.967del (p.Ser323fs) rs80338741
NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg) rs80358226
NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser) rs80358227
NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter) rs80358225
NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro) rs80358228
NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter) rs80358224
NM_002353.3(TACSTD2):c.632del (p.Gln211fs) rs1569579635
NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) rs80358192
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) rs80358191
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val) rs727504229
NM_006793.5(PRDX3):c.568G>C (p.Asp190His) rs2133650052
NM_007035.4(KERA):c.320T>G (p.Ile107Arg) rs757611751
NM_007035.4(KERA):c.520C>T (p.Gln174Ter) rs121917860
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs) rs587777573
NM_012293.3(PXDN):c.2568del (p.Cys857fs) rs558163499
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser) rs118203945
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly) rs118203950
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly) rs118203947
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro) rs118203951
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile) rs118203948
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg) rs118203946
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg) rs118203952
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser) rs118203949
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu) rs118203953
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter) rs121918337
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs) rs869312464
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs) rs387907335
NM_018699.3(PRDM5):c.946_1623del
NM_018699.4(PRDM5):c.93+1G>A rs1267369024
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.576C>A (p.Cys192Ter)
NM_021220.4(OVOL2):c.-274T>G rs869320630
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg) rs28937877
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu) rs28937878
NM_024915.4(GRHL2):c.20+133del rs1554579819
NM_024915.4(GRHL2):c.20+544G>T rs1554579878
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr) rs1057519492
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val) rs1057519493
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr) rs397514692
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val) rs267607431
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro) rs60410063
NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs) rs756938019
NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter) rs1553500862
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715

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