ClinVar Miner

List of variants reported as uncertain significance for congenital entropion by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 457
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00243
NM_006907.4(PYCR1):c.*477C>T rs539637881 0.00236
NM_016938.5(EFEMP2):c.*115G>A rs187686630 0.00223
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_152281.3(GORAB):c.*1127T>G rs542501839 0.00159
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_006907.4(PYCR1):c.261G>A (p.Glu87=) rs138261889 0.00144
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_152281.3(GORAB):c.*1063T>A rs577629045 0.00121
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_002860.3(ALDH18A1):c.-223C>G rs566221549 0.00105
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_001042545.2(LTBP4):c.2436G>A (p.Val812=) rs371083223 0.00090
NM_006907.4(PYCR1):c.*352C>G rs149456432 0.00090
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) rs199875504 0.00071
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala) rs201279198 0.00069
NM_016938.5(EFEMP2):c.*282C>T rs572394429 0.00068
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_006907.4(PYCR1):c.*440C>T rs562300433 0.00063
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=) rs374862225 0.00057
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_006329.4(FBLN5):c.*363C>T rs536827304 0.00049
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.3(ALDH18A1):c.*829C>T rs375868871 0.00041
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_000501.4(ELN):c.*238C>T rs546341976 0.00038
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_016938.4(EFEMP2):c.-229G>C rs886048510 0.00036
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) rs138502097 0.00036
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00034
NM_006329.4(FBLN5):c.*121C>T rs548351890 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_001042545.2(LTBP4):c.*121C>G rs551134075 0.00031
NM_006907.4(PYCR1):c.399C>T (p.Thr133=) rs148883988 0.00031
NM_006907.4(PYCR1):c.*62G>C rs566605955 0.00030
NM_006907.4(PYCR1):c.285C>T (p.Cys95=) rs113491328 0.00029
NM_006907.4(PYCR1):c.615C>T (p.Leu205=) rs755711481 0.00028
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_152281.3(GORAB):c.*1039A>G rs777070030 0.00024
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_006907.4(PYCR1):c.-196G>A rs764095488 0.00021
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_152281.3(GORAB):c.941C>T (p.Ala314Val) rs187680628 0.00021
NM_000501.4(ELN):c.*95C>T rs181078432 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_006907.4(PYCR1):c.176C>T (p.Thr59Met) rs150227130 0.00017
NM_006907.4(PYCR1):c.*307G>T rs201670221 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_152281.3(GORAB):c.*102G>A rs555373548 0.00015
NM_000501.4(ELN):c.*489G>T rs886062432 0.00014
NM_001042545.2(LTBP4):c.2431+11T>C rs370485510 0.00014
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00014
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_002860.3(ALDH18A1):c.-166T>C rs185345785 0.00013
NM_006907.4(PYCR1):c.-48G>C rs376495113 0.00013
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00013
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_152281.3(GORAB):c.626G>A (p.Arg209Gln) rs200802067 0.00012
NM_006907.4(PYCR1):c.*150C>T rs968788815 0.00011
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_152281.3(GORAB):c.-53C>A rs150688009 0.00011
NM_000501.4(ELN):c.*570G>A rs565400803 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_016938.5(EFEMP2):c.*305C>T rs886048504 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_000501.4(ELN):c.*532C>T rs939778506 0.00009
NM_000501.4(ELN):c.*591C>T rs782460313 0.00009
NM_001042545.2(LTBP4):c.443-14C>T rs375934176 0.00009
NM_006329.4(FBLN5):c.*98G>A rs568348723 0.00009
NM_006907.4(PYCR1):c.180G>A (p.Val60=) rs142458410 0.00009
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_000501.4(ELN):c.*644G>A rs759507028 0.00008
NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) rs574587568 0.00008
NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) rs886054445 0.00008
NM_006329.4(FBLN5):c.*426C>T rs553193064 0.00008
NM_006907.4(PYCR1):c.768C>T (p.Asn256=) rs553609380 0.00008
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_006329.4(FBLN5):c.-413C>T rs886050892 0.00007
NM_006907.4(PYCR1):c.*245T>C rs376135136 0.00007
NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu) rs373840170 0.00007
NM_152281.3(GORAB):c.188A>G (p.Glu63Gly) rs200333798 0.00007
NM_152281.3(GORAB):c.522-9A>T rs185701616 0.00007
NM_000501.4(ELN):c.*629T>C rs776424755 0.00006
NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) rs770079010 0.00006
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_006907.4(PYCR1):c.110T>G (p.Met37Arg) rs138792258 0.00006
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe) rs149089833 0.00006
NM_002860.3(ALDH18A1):c.-189T>C rs886047516 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_152281.3(GORAB):c.*653T>C rs886045556 0.00005
NM_152281.3(GORAB):c.*980A>T rs544243091 0.00005
NM_152281.3(GORAB):c.-48dup rs759432675 0.00005
NM_152281.3(GORAB):c.-57T>C rs188031069 0.00005
NM_152281.3(GORAB):c.461G>A (p.Arg154Gln) rs749838967 0.00005
NM_000501.4(ELN):c.*664G>A rs952638605 0.00004
NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=) rs1213927843 0.00004
NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=) rs554968375 0.00004
NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=) rs768587659 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys) rs200951126 0.00004
NM_006907.4(PYCR1):c.*195_*196del rs886053570 0.00004
NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys) rs778823558 0.00004
NM_006907.4(PYCR1):c.717C>T (p.Ile239=) rs745549446 0.00004
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_000501.4(ELN):c.*663C>T rs886062433 0.00003
NM_000501.4(ELN):c.*794C>T rs185988110 0.00003
NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp) rs758290097 0.00003
NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=) rs746458434 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_006329.4(FBLN5):c.*458T>C rs886050887 0.00003
NM_006907.4(PYCR1):c.*104G>A rs553890358 0.00003
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00003
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_152281.3(GORAB):c.*944A>G rs371932538 0.00003
NM_152281.3(GORAB):c.24C>G (p.Phe8Leu) rs151006839 0.00003
NM_000501.4(ELN):c.*251C>T rs886062430 0.00002
NM_000501.4(ELN):c.*631C>T rs1168466814 0.00002
NM_000501.4(ELN):c.*997G>T rs886062434 0.00002
NM_000501.4(ELN):c.1097-8C>G rs781785100 0.00002
NM_000501.4(ELN):c.133+6G>A rs1216357938 0.00002
NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=) rs543717406 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) rs886054444 0.00002
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_152281.3(GORAB):c.*1160G>A rs550890680 0.00002
NM_152281.3(GORAB):c.*598A>G rs886045555 0.00002
NM_152281.3(GORAB):c.*803T>C rs753455699 0.00002
NM_152281.3(GORAB):c.*818A>G rs886045558 0.00002
NM_152281.3(GORAB):c.276C>T (p.Thr92=) rs370271267 0.00002
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_001042545.2(LTBP4):c.*25C>T rs1284761820 0.00001
NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) rs745624027 0.00001
NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) rs886054447 0.00001
NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) rs2303726 0.00001
NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) rs762286016 0.00001
NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) rs562892147 0.00001
NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu) rs531174154 0.00001
NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) rs771378692 0.00001
NM_001042545.2(LTBP4):c.864C>T (p.Cys288=) rs758784148 0.00001
NM_002860.3(ALDH18A1):c.-162A>G rs886047515 0.00001
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_006329.4(FBLN5):c.*419G>C rs1451509746 0.00001
NM_006329.4(FBLN5):c.*653G>A rs886050886 0.00001
NM_006329.4(FBLN5):c.*775A>C rs886050885 0.00001
NM_006329.4(FBLN5):c.*77T>A rs1326922015 0.00001
NM_006329.4(FBLN5):c.-382C>G rs886050890 0.00001
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889 0.00001
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) rs1221579102 0.00001
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) rs756288143 0.00001
NM_006907.4(PYCR1):c.*229C>T rs759568144 0.00001
NM_006907.4(PYCR1):c.*769C>T rs545491725 0.00001
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) rs757775762 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_016938.5(EFEMP2):c.*174G>A rs762945459 0.00001
NM_016938.5(EFEMP2):c.*182A>G rs1565271753 0.00001
NM_016938.5(EFEMP2):c.*247A>C rs1486449571 0.00001
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_152281.3(GORAB):c.*222G>T rs886045553 0.00001
NM_152281.3(GORAB):c.*998A>G rs1364927513 0.00001
NM_152281.3(GORAB):c.113T>G (p.Leu38Arg) rs781535204 0.00001
NM_152281.3(GORAB):c.274A>G (p.Thr92Ala) rs759352018 0.00001
NM_152281.3(GORAB):c.61+13G>T rs202005173 0.00001
NM_152281.3(GORAB):c.649T>C (p.Tyr217His) rs749490786 0.00001
NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) rs761243601 0.00001
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.*102C>T rs1464325009
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*171C>T rs781941957
NM_000501.4(ELN):c.*264C>A rs1309771565
NM_000501.4(ELN):c.*358C>T rs1489252176
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*578T>C rs1798608245
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1941C>A (p.Leu647=) rs782117709
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000501.4(ELN):c.717G>T (p.Ala239=) rs782502253
NM_001042545.2(LTBP4):c.*125C>T rs569370832
NM_001042545.2(LTBP4):c.*126G>T rs567854760
NM_001042545.2(LTBP4):c.*185_*187del rs558641472
NM_001042545.2(LTBP4):c.*259C>G rs868829972
NM_001042545.2(LTBP4):c.*42G>A rs2081663869
NM_001042545.2(LTBP4):c.*59C>T rs1362204630
NM_001042545.2(LTBP4):c.*97G>T rs1242020458
NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) rs770158909
NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met) rs886054446
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) rs578204135
NM_001042545.2(LTBP4):c.2180-3C>A rs560687578
NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) rs559350666
NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=) rs762043638
NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) rs544671195
NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) rs886054448
NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg) rs886054449
NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) rs886054450
NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu) rs886054451
NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) rs2081452931
NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) rs759941927
NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala) rs2081460773
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.*803del rs775267777
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.453+13del rs773804418
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_003573.2(LTBP4):c.213C>A (p.Leu71=) rs886054443
NM_003573.2(LTBP4):c.231-14C>G rs2081412659
NM_003573.2(LTBP4):c.273G>C (p.Arg91=) rs2081413206
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000
NM_006329.4(FBLN5):c.-139C>T rs554315938
NM_006329.4(FBLN5):c.-389C>A rs886050891
NM_006329.4(FBLN5):c.-428G>C rs886050893
NM_006329.4(FBLN5):c.-77C>G rs751344551
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) rs754104809
NM_006329.4(FBLN5):c.124+8C>A rs2056089374
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) rs148209555
NM_006907.4(PYCR1):c.*195A>T rs2041031817
NM_006907.4(PYCR1):c.*482G>A rs570757755
NM_006907.4(PYCR1):c.*504G>C rs886053569
NM_006907.4(PYCR1):c.*622G>A rs886053568
NM_006907.4(PYCR1):c.*699G>T rs886053567
NM_006907.4(PYCR1):c.*746C>T rs886053566
NM_006907.4(PYCR1):c.-250C>T rs886053572
NM_006907.4(PYCR1):c.-77G>A rs886053571
NM_006907.4(PYCR1):c.164A>T (p.His55Leu) rs777125670
NM_006907.4(PYCR1):c.409A>G (p.Thr137Ala) rs1243324455
NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly) rs2041137102
NM_006907.4(PYCR1):c.798-4C>T rs1265069029
NM_012463.3(ATP6V0A2):c.-243C>A rs886049058
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2186_*2189del rs772714418
NM_012463.4(ATP6V0A2):c.*2344_*2346dup rs886049074
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*2984_*2986del rs886049075
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*60dup rs747772644
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) rs886049061
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931
NM_016938.4(EFEMP2):c.-143_-140GGCG[4] rs886048508
NM_016938.4(EFEMP2):c.-181G>A rs886048509
NM_016938.5(EFEMP2):c.*165dup rs201135561
NM_016938.5(EFEMP2):c.*3A>G rs886048505
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1249G>A rs940735282
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*659G>A rs868705835
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_152281.2(GORAB):c.3G>A (p.Met1Ile) rs769937320
NM_152281.3(GORAB):c.*1305T>C rs1330502353
NM_152281.3(GORAB):c.*349G>A rs886045554
NM_152281.3(GORAB):c.*404A>G rs1308965013
NM_152281.3(GORAB):c.*612A>G rs1650226571
NM_152281.3(GORAB):c.*771A>T rs886045557
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.282C>G (p.Pro94=) rs767686838
NM_152281.3(GORAB):c.560G>A (p.Arg187Gln) rs190557815

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