ClinVar Miner

List of variants reported as pathogenic for congenital entropion by OMIM

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00006
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) rs119455951 0.00002
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) rs397515430 0.00001
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter) rs119455952 0.00001
ATP6V0A2, 1-BP INS, 100A
ATP7A, 8-BP DEL, NT1552
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
GORAB, 1-BP DEL, 257C
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1946del (p.Gly649fs) rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) rs267607228
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) rs606231159
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) rs797044471
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) rs1382026467
NM_001042545.2(LTBP4):c.701del (p.Pro234fs) rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) rs267607229
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala) rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup) rs869320750
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) rs1060505031
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006907.4(PYCR1):c.11del (p.Gly4fs) rs1598358449
NM_006907.4(PYCR1):c.345del (p.Arg116fs) rs758601634
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) rs121918376
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) rs121918375
NM_006907.4(PYCR1):c.618_633+7del rs1598354372
NM_006907.4(PYCR1):c.797+2_797+5del rs1371235353
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_018993.4(RIN2):c.1731del (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1731dup (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs) rs587776915
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro) rs183596463
NM_152281.3(GORAB):c.662+5G>C rs1330106644
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) rs1441358067
NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs) rs2149767574
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter) rs2150084747
NM_206943.4(LTBP1):c.4844del (p.Asn1615fs) rs2150785723

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