ClinVar Miner

List of variants reported as likely benign for congenital entropion by Illumina Laboratory Services, Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.348G>A (p.Arg116=) rs35533499 0.01229
NM_030777.4(SLC2A10):c.*1340G>A rs78189695 0.01153
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_030777.4(SLC2A10):c.*1449T>C rs181344940 0.00451
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_012463.4(ATP6V0A2):c.*998T>C rs12298446 0.00401
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_000501.4(ELN):c.*429C>T rs62476387 0.00365
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_012463.4(ATP6V0A2):c.-117C>T rs532360215 0.00315
NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=) rs117273116 0.00290
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_012463.4(ATP6V0A2):c.*785T>C rs146660715 0.00262
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_030777.4(SLC2A10):c.*29C>G rs34965637 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_030777.4(SLC2A10):c.*194G>T rs192739192 0.00240
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_030777.4(SLC2A10):c.*1272G>C rs562491351 0.00185
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_030777.4(SLC2A10):c.*410A>C rs146660985 0.00039
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_006329.4(FBLN5):c.989+9C>T rs557362799 0.00026
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_006907.4(PYCR1):c.329C>T (p.Ala110Val) rs138195513 0.00012
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966 0.00011
NM_152281.3(GORAB):c.719G>A (p.Arg240His) rs149924639 0.00009
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_012463.4(ATP6V0A2):c.*2485C>T rs144043973 0.00006
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_000501.4(ELN):c.478T>C (p.Phe160Leu) rs781857513 0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met) rs199709542 0.00004
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) rs368771780 0.00004
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_030777.4(SLC2A10):c.*1141G>A rs571798872
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237

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