ClinVar Miner

List of variants in gene OCRL studied for Lowe syndrome

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Gene type:
ClinVar version:
Total variants: 567
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.199+16C>G rs5977104 0.21795
NM_000276.4(OCRL):c.940-12C>T rs141800769 0.01112
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625 0.00301
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn) rs137884245 0.00169
NM_000276.4(OCRL):c.2116-9C>T rs145297701 0.00159
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_000276.4(OCRL):c.1602+11G>A rs189554643 0.00075
NM_000276.4(OCRL):c.239-20T>C rs376289741 0.00073
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val) rs773281269 0.00042
NM_000276.4(OCRL):c.954C>T (p.Arg318=) rs149646700 0.00035
NM_000276.4(OCRL):c.1506T>C (p.Leu502=) rs145936187 0.00026
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) rs147629352 0.00024
NM_000276.4(OCRL):c.912T>G (p.Gly304=) rs190659938 0.00022
NM_000276.4(OCRL):c.105G>A (p.Arg35=) rs142321728 0.00020
NM_000276.4(OCRL):c.152A>G (p.His51Arg) rs764804719 0.00020
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=) rs377180274 0.00014
NM_000276.4(OCRL):c.350-5T>C rs200744251 0.00014
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) rs760751280 0.00014
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val) rs145139567 0.00013
NM_000276.4(OCRL):c.1587C>G (p.Ala529=) rs375634816 0.00013
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897 0.00013
NM_000276.4(OCRL):c.351T>G (p.Ala117=) rs764237144 0.00011
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn) rs372298378 0.00011
NM_000276.4(OCRL):c.939+8G>A rs369386155 0.00011
NM_000276.4(OCRL):c.1221G>A (p.Pro407=) rs747651906 0.00010
NM_000276.4(OCRL):c.72C>G (p.Leu24=) rs772216523 0.00009
NM_000276.4(OCRL):c.561-7T>A rs376622194 0.00008
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg) rs148646884 0.00006
NM_000276.4(OCRL):c.284G>A (p.Arg95His) rs770375201 0.00006
NM_000276.4(OCRL):c.1466+16C>T rs750356239 0.00005
NM_000276.4(OCRL):c.1602G>A (p.Gly534=) rs773214157 0.00005
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser) rs751678290 0.00005
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) rs376280495 0.00005
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys) rs749551841 0.00005
NM_000276.4(OCRL):c.39+8C>T rs1051771435 0.00005
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala) rs768913997 0.00005
NM_000276.4(OCRL):c.1395C>T (p.Asp465=) rs754797006 0.00004
NM_000276.4(OCRL):c.1467T>C (p.Ser489=) rs142398161 0.00004
NM_000276.4(OCRL):c.1713+6C>G rs191367057 0.00004
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu) rs753260631 0.00004
NM_000276.4(OCRL):c.2694C>T (p.Ser898=) rs780742903 0.00004
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942 0.00004
NM_000276.4(OCRL):c.1416G>A (p.Lys472=) rs367841616 0.00003
NM_000276.4(OCRL):c.1614G>A (p.Val538=) rs748308192 0.00003
NM_000276.4(OCRL):c.2427G>A (p.Gln809=) rs145277867 0.00003
NM_000276.4(OCRL):c.324C>T (p.Leu108=) rs754424104 0.00003
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala) rs371099243 0.00003
NM_000276.4(OCRL):c.441G>A (p.Gly147=) rs199624352 0.00003
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys) rs761140161 0.00002
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly) rs771429717 0.00002
NM_000276.4(OCRL):c.1431T>C (p.Tyr477=) rs371330116 0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_000276.4(OCRL):c.2244C>T (p.Tyr748=) rs781297236 0.00002
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg) rs1336177262 0.00002
NM_000276.4(OCRL):c.561-13A>G rs773509037 0.00002
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) rs1388273402 0.00002
NM_000276.4(OCRL):c.963G>A (p.Gly321=) rs763484849 0.00002
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000276.4(OCRL):c.1104C>T (p.Thr368=) rs1457897461 0.00001
NM_000276.4(OCRL):c.115T>C (p.Tyr39His) rs756670728 0.00001
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) rs398123287 0.00001
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr) rs1219583539 0.00001
NM_000276.4(OCRL):c.1603-12A>G rs1440624100 0.00001
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr) rs1278754966 0.00001
NM_000276.4(OCRL):c.1656C>T (p.Arg552=) rs761645724 0.00001
NM_000276.4(OCRL):c.1880-8C>T rs750041502 0.00001
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala) rs768629676 0.00001
NM_000276.4(OCRL):c.1944G>A (p.Ser648=) rs776881376 0.00001
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile) rs1936370341 0.00001
NM_000276.4(OCRL):c.2115+4A>G rs1326476020 0.00001
NM_000276.4(OCRL):c.2582-9G>A rs2071705 0.00001
NM_000276.4(OCRL):c.39+16A>C rs1242261409 0.00001
NM_000276.4(OCRL):c.52A>G (p.Met18Val) rs779021479 0.00001
NM_000276.4(OCRL):c.560+20A>G rs767279122 0.00001
NM_000276.4(OCRL):c.768C>T (p.Ser256=) rs1368090073 0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile) rs762676076 0.00001
NC_000023.10:g.(?_128674417)_(128674820_?)del
NC_000023.10:g.(?_128674417)_(128679034_?)dup
NC_000023.10:g.(?_128674417)_(128696783_?)del
NC_000023.10:g.(?_128674417)_(128724247_?)del
NC_000023.10:g.(?_128682520)_(128724247_?)dup
NC_000023.10:g.(?_128699729)_(128701360_?)del
NC_000023.10:g.(?_128720959)_(128724247_?)del
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.129558634del
NC_000023.11:g.129565773del rs2124409486
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
NM_000276.4(OCRL):c.1050del (p.Met352fs)
NM_000276.4(OCRL):c.1056+19G>T
NM_000276.4(OCRL):c.1057-13C>A
NM_000276.4(OCRL):c.1057-19T>C
NM_000276.4(OCRL):c.1057-2_1057-1del
NM_000276.4(OCRL):c.1057-6T>G
NM_000276.4(OCRL):c.1057-7C>A
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1083A>G (p.Arg361=)
NM_000276.4(OCRL):c.1089A>G (p.Val363=)
NM_000276.4(OCRL):c.1095C>T (p.His365=)
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg) rs767054196
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg) rs767054196
NM_000276.4(OCRL):c.1110C>T (p.Cys370=)
NM_000276.4(OCRL):c.1113T>C (p.Ile371=)
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1122C>T (p.Ser374=)
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1128G>T (p.Leu376=)
NM_000276.4(OCRL):c.1139T>C (p.Val380Ala)
NM_000276.4(OCRL):c.114A>G (p.Gln38=)
NM_000276.4(OCRL):c.1155A>G (p.Arg385=)
NM_000276.4(OCRL):c.117T>C (p.Tyr39=)
NM_000276.4(OCRL):c.1185G>C (p.Ala395=)
NM_000276.4(OCRL):c.119+11A>G
NM_000276.4(OCRL):c.119+12C>T
NM_000276.4(OCRL):c.119+15G>C
NM_000276.4(OCRL):c.119+8dup
NM_000276.4(OCRL):c.120-17G>A
NM_000276.4(OCRL):c.120-4C>T
NM_000276.4(OCRL):c.120-5C>T
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
NM_000276.4(OCRL):c.1220C>G (p.Pro407Arg)
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1242T>C (p.His414=)
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1244+13_1244+38del rs1465814805
NM_000276.4(OCRL):c.1244+13_1244+41delinsAAA rs2124406244
NM_000276.4(OCRL):c.1244+14T>C
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1244+20_1244+26dup
NM_000276.4(OCRL):c.1244+8G>T
NM_000276.4(OCRL):c.1245-10dup
NM_000276.4(OCRL):c.1245-18C>T
NM_000276.4(OCRL):c.1245-20T>G
NM_000276.4(OCRL):c.1245-7T>C
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1281T>C (p.Leu427=)
NM_000276.4(OCRL):c.129C>T (p.Ile43=)
NM_000276.4(OCRL):c.1320T>C (p.Asn440=)
NM_000276.4(OCRL):c.1329C>T (p.Asp443=)
NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe)
NM_000276.4(OCRL):c.1341C>G (p.Leu447=)
NM_000276.4(OCRL):c.1350C>T (p.Phe450=)
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1353C>T (p.Asp451=)
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg) rs1936210819
NM_000276.4(OCRL):c.1356+17T>C
NM_000276.4(OCRL):c.1356+7A>G
NM_000276.4(OCRL):c.1357-10C>G
NM_000276.4(OCRL):c.1357-14C>T
NM_000276.4(OCRL):c.1359A>C (p.Leu453=)
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) rs1569460215
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys) rs137853839
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) rs1602791150
NM_000276.4(OCRL):c.1374A>T (p.Thr458=)
NM_000276.4(OCRL):c.1380A>G (p.Lys460=)
NM_000276.4(OCRL):c.1386T>C (p.Ala462=)
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1389T>C (p.Phe463=)
NM_000276.4(OCRL):c.1391T>C (p.Val464Ala)
NM_000276.4(OCRL):c.1393G>C (p.Asp465His)
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1419C>T (p.Phe473=)
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer) rs1602791255
NM_000276.4(OCRL):c.1449A>C (p.Thr483=)
NM_000276.4(OCRL):c.1454G>A (p.Arg485Gln)
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro) rs993587899
NM_000276.4(OCRL):c.1466+12A>G
NM_000276.4(OCRL):c.1466+1G>A rs1936229983
NM_000276.4(OCRL):c.1466+20C>T
NM_000276.4(OCRL):c.1467-11T>G
NM_000276.4(OCRL):c.1467-12_1467-9dup
NM_000276.4(OCRL):c.1467-16G>A
NM_000276.4(OCRL):c.1467-16del
NM_000276.4(OCRL):c.1467-3C>G rs779822028
NM_000276.4(OCRL):c.1467-4dup
NM_000276.4(OCRL):c.1470G>A (p.Gly490=)
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)
NM_000276.4(OCRL):c.1479G>A (p.Arg493=)
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) rs1569460717
NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)
NM_000276.4(OCRL):c.1518A>G (p.Thr506=)
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1526A>C (p.Asn509Thr)
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.153T>A (p.His51Gln) rs1392543051
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1566C>T (p.Ser522=)
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn) rs2124412861
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser) rs886039518
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1584C>T (p.Ser528=)
NM_000276.4(OCRL):c.1586C>A (p.Ala529Asp)
NM_000276.4(OCRL):c.1595A>G (p.His532Arg)
NM_000276.4(OCRL):c.1602+15G>T
NM_000276.4(OCRL):c.1602+17A>T rs2124412959
NM_000276.4(OCRL):c.1602+1G>T rs2124412937
NM_000276.4(OCRL):c.1602+5A>G
NM_000276.4(OCRL):c.1603-13C>T
NM_000276.4(OCRL):c.1603-20G>A
NM_000276.4(OCRL):c.1603-4T>C
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.4(OCRL):c.1626G>A (p.Arg542=)
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)
NM_000276.4(OCRL):c.1653A>G (p.Val551=)
NM_000276.4(OCRL):c.1655G>A (p.Arg552His) rs2124417872
NM_000276.4(OCRL):c.165C>A (p.Ile55=)
NM_000276.4(OCRL):c.1666A>C (p.Arg556=)
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)
NM_000276.4(OCRL):c.1710G>A (p.Arg570=)
NM_000276.4(OCRL):c.1712del (p.Glu571fs)
NM_000276.4(OCRL):c.1713+1G>A
NM_000276.4(OCRL):c.1713+7A>G
NM_000276.4(OCRL):c.1714-10T>C
NM_000276.4(OCRL):c.1714-14C>T
NM_000276.4(OCRL):c.1714-17T>C
NM_000276.4(OCRL):c.1714-18C>G
NM_000276.4(OCRL):c.1714-18C>T
NM_000276.4(OCRL):c.1714-1G>A rs794727182
NM_000276.4(OCRL):c.1714-2A>G
NM_000276.4(OCRL):c.1714-4C>T
NM_000276.4(OCRL):c.1714-6C>T
NM_000276.4(OCRL):c.1714-7T>C
NM_000276.4(OCRL):c.1714-8T>C
NM_000276.4(OCRL):c.1714-9del
NM_000276.4(OCRL):c.1725A>G (p.Glu575=)
NM_000276.4(OCRL):c.1731G>A (p.Val577=)
NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) rs1936362098
NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)
NM_000276.4(OCRL):c.1758G>A (p.Lys586=)
NM_000276.4(OCRL):c.1764G>A (p.Gln588=)
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)
NM_000276.4(OCRL):c.181C>T (p.His61Tyr) rs2124388046
NM_000276.4(OCRL):c.1821C>T (p.Asp607=)
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
NM_000276.4(OCRL):c.183C>T (p.His61=)
NM_000276.4(OCRL):c.1863G>A (p.Glu621=)
NM_000276.4(OCRL):c.1879+19A>G
NM_000276.4(OCRL):c.1879+2T>G
NM_000276.4(OCRL):c.1880-19A>G
NM_000276.4(OCRL):c.1880-7A>G
NM_000276.4(OCRL):c.1880-9A>C
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
NM_000276.4(OCRL):c.1887A>G (p.Thr629=)
NM_000276.4(OCRL):c.1893C>A (p.Asp631Glu)
NM_000276.4(OCRL):c.1898C>T (p.Ser633Phe)
NM_000276.4(OCRL):c.1905T>C (p.Asp635=)
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) rs1602802472
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs) rs2124418946
NM_000276.4(OCRL):c.1926T>C (p.Ser642=)
NM_000276.4(OCRL):c.1956G>A (p.Lys652=)
NM_000276.4(OCRL):c.1971C>A (p.Leu657=)
NM_000276.4(OCRL):c.1971C>T (p.Leu657=)
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)
NM_000276.4(OCRL):c.1974C>T (p.Val658=) rs781410604
NM_000276.4(OCRL):c.1979A>C (p.His660Pro) rs1602802640
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter) rs2124419015
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu) rs745885693
NM_000276.4(OCRL):c.199+10T>C
NM_000276.4(OCRL):c.199+20A>G
NM_000276.4(OCRL):c.200-11T>C
NM_000276.4(OCRL):c.200-11dup rs765652296
NM_000276.4(OCRL):c.200-3del
NM_000276.4(OCRL):c.200-4T>C
NM_000276.4(OCRL):c.200-4_200-3del rs753117153
NM_000276.4(OCRL):c.200-7C>T
NM_000276.4(OCRL):c.200-7dup
NM_000276.4(OCRL):c.2007G>A (p.Leu669=)
NM_000276.4(OCRL):c.2016T>C (p.Ser672=) rs1012694347
NM_000276.4(OCRL):c.2049C>T (p.Ser683=)
NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs)
NM_000276.4(OCRL):c.2058T>C (p.Ala686=)
NM_000276.4(OCRL):c.207A>G (p.Glu69=)
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) rs2124419087
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys) rs2124419096
NM_000276.4(OCRL):c.2097T>G (p.Val699=)
NM_000276.4(OCRL):c.2106C>T (p.Leu702=)
NM_000276.4(OCRL):c.2112C>T (p.Asp704=)
NM_000276.4(OCRL):c.2115+15A>G
NM_000276.4(OCRL):c.2116-11T>A rs2124426123
NM_000276.4(OCRL):c.2116-14T>C
NM_000276.4(OCRL):c.2116-16C>T
NM_000276.4(OCRL):c.2116-16_2116-12del
NM_000276.4(OCRL):c.2116-8G>A
NM_000276.4(OCRL):c.2116-8G>T
NM_000276.4(OCRL):c.2132T>G (p.Leu711Arg)
NM_000276.4(OCRL):c.2136A>G (p.Glu712=)
NM_000276.4(OCRL):c.2139+13A>G
NM_000276.4(OCRL):c.2139+17G>A
NM_000276.4(OCRL):c.2139+20G>A
NM_000276.4(OCRL):c.2139+7C>T
NM_000276.4(OCRL):c.2139+9A>G
NM_000276.4(OCRL):c.2140-12T>C
NM_000276.4(OCRL):c.2140-18T>C
NM_000276.4(OCRL):c.2145A>G (p.Lys715=)
NM_000276.4(OCRL):c.2151T>G (p.Leu717=)
NM_000276.4(OCRL):c.2154G>T (p.Leu718=)
NM_000276.4(OCRL):c.2199G>A (p.Gln733=)
NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)
NM_000276.4(OCRL):c.2214C>T (p.Ile738=)
NM_000276.4(OCRL):c.2256+10_2256+11del
NM_000276.4(OCRL):c.2256+12T>C
NM_000276.4(OCRL):c.2256+17del
NM_000276.4(OCRL):c.2256+18T>C
NM_000276.4(OCRL):c.2256+1G>T rs2124428298
NM_000276.4(OCRL):c.2256+20C>T
NM_000276.4(OCRL):c.2256+6T>C
NM_000276.4(OCRL):c.2257-20C>A
NM_000276.4(OCRL):c.2257-2A>T rs2124429175
NM_000276.4(OCRL):c.2277T>G (p.Pro759=)
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) rs794727333
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)
NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs)
NM_000276.4(OCRL):c.2314C>T (p.Leu772=)
NM_000276.4(OCRL):c.2341+11C>T
NM_000276.4(OCRL):c.2341+12G>A rs756410458
NM_000276.4(OCRL):c.2341+12G>C
NM_000276.4(OCRL):c.2341C>G (p.Pro781Ala)
NM_000276.4(OCRL):c.2342-10G>A
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs) rs886039519
NM_000276.4(OCRL):c.2376C>G (p.Leu792=)
NM_000276.4(OCRL):c.238+19G>A
NM_000276.4(OCRL):c.238+3G>A
NM_000276.4(OCRL):c.238+6T>C
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) rs935956958
NM_000276.4(OCRL):c.238_238+1del
NM_000276.4(OCRL):c.239-3dup
NM_000276.4(OCRL):c.239-4023A>G rs1057515577
NM_000276.4(OCRL):c.239-4T>A
NM_000276.4(OCRL):c.239-7T>C
NM_000276.4(OCRL):c.2392C>T (p.Leu798=)
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet) rs2124429709
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)
NM_000276.4(OCRL):c.2449G>T (p.Asp817Tyr)
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.2469+12T>C
NM_000276.4(OCRL):c.2469+13G>A
NM_000276.4(OCRL):c.2469+17T>C
NM_000276.4(OCRL):c.2469+18G>A
NM_000276.4(OCRL):c.2469+1G>A rs1936553500
NM_000276.4(OCRL):c.2469+4G>T
NM_000276.4(OCRL):c.2469+8C>T
NM_000276.4(OCRL):c.2470-16C>G
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.2470-4A>G
NM_000276.4(OCRL):c.2470-9T>A
NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9) rs2124430398
NM_000276.4(OCRL):c.2478C>T (p.Ser826=) rs1936564599
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
NM_000276.4(OCRL):c.2487G>A (p.Pro829=)
NM_000276.4(OCRL):c.2490A>G (p.Arg830=)
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)
NM_000276.4(OCRL):c.2523A>G (p.Ala841=)
NM_000276.4(OCRL):c.2529T>C (p.Leu843=)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2531G>A (p.Arg844Gln)
NM_000276.4(OCRL):c.2535A>G (p.Glu845=)
NM_000276.4(OCRL):c.2553A>G (p.Glu851=)
NM_000276.4(OCRL):c.2556C>T (p.Tyr852=)
NM_000276.4(OCRL):c.2562C>T (p.Ser854=)
NM_000276.4(OCRL):c.2581+15T>G
NM_000276.4(OCRL):c.2581+16G>A
NM_000276.4(OCRL):c.2581+19A>C
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro) rs2124430527
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)
NM_000276.4(OCRL):c.2582-10C>T
NM_000276.4(OCRL):c.2582-18C>T
NM_000276.4(OCRL):c.2582-3T>A rs2124430712
NM_000276.4(OCRL):c.2586T>A (p.Thr862=)
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val) rs2124430719
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)
NM_000276.4(OCRL):c.2607G>A (p.Leu869=)
NM_000276.4(OCRL):c.2613T>C (p.Pro871=)
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)
NM_000276.4(OCRL):c.2621A>G (p.Asn874Ser)
NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)
NM_000276.4(OCRL):c.2658T>A (p.Arg886=)
NM_000276.4(OCRL):c.265G>C (p.Asp89His)
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.283C>T (p.Arg95Cys)
NM_000276.4(OCRL):c.311G>C (p.Cys104Ser)
NM_000276.4(OCRL):c.318G>A (p.Lys106=)
NM_000276.4(OCRL):c.332T>C (p.Val111Ala) rs2124401168
NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)
NM_000276.4(OCRL):c.349+12C>T
NM_000276.4(OCRL):c.349+16G>A
NM_000276.4(OCRL):c.349+17C>T
NM_000276.4(OCRL):c.349+18G>A
NM_000276.4(OCRL):c.349+2T>G
NM_000276.4(OCRL):c.350-10A>C
NM_000276.4(OCRL):c.350-14C>T rs2124401607
NM_000276.4(OCRL):c.350-6C>G
NM_000276.4(OCRL):c.350-7T>A
NM_000276.4(OCRL):c.350-9TC[2] rs1936081749
NM_000276.4(OCRL):c.370C>G (p.Pro124Ala) rs2124401648
NM_000276.4(OCRL):c.384C>T (p.Asp128=)
NM_000276.4(OCRL):c.39+14A>C
NM_000276.4(OCRL):c.39+15G>A
NM_000276.4(OCRL):c.39+15G>C
NM_000276.4(OCRL):c.39+16_39+19del
NM_000276.4(OCRL):c.39+17A>C
NM_000276.4(OCRL):c.39+17A>G
NM_000276.4(OCRL):c.39+18G>C
NM_000276.4(OCRL):c.39+19G>A
NM_000276.4(OCRL):c.39+20G>C
NM_000276.4(OCRL):c.39+9C>G rs1261991452
NM_000276.4(OCRL):c.393C>T (p.Ser131=)
NM_000276.4(OCRL):c.40-11A>G
NM_000276.4(OCRL):c.40-20C>T
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000276.4(OCRL):c.40-8G>A
NM_000276.4(OCRL):c.40-8G>T
NM_000276.4(OCRL):c.405A>G (p.Lys135=)
NM_000276.4(OCRL):c.411C>T (p.Asp137=)
NM_000276.4(OCRL):c.417G>A (p.Lys139=)
NM_000276.4(OCRL):c.423A>G (p.Lys141=)
NM_000276.4(OCRL):c.427T>C (p.Ser143Pro)
NM_000276.4(OCRL):c.430G>T (p.Val144Phe) rs1283513096
NM_000276.4(OCRL):c.431T>C (p.Val144Ala)
NM_000276.4(OCRL):c.432T>C (p.Val144=)
NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)
NM_000276.4(OCRL):c.439+10A>T
NM_000276.4(OCRL):c.439+10del
NM_000276.4(OCRL):c.439+11G>T
NM_000276.4(OCRL):c.439+15C>G
NM_000276.4(OCRL):c.439+15C>T
NM_000276.4(OCRL):c.439+7A>G
NM_000276.4(OCRL):c.439+9A>T
NM_000276.4(OCRL):c.43G>C (p.Val15Leu) rs2071724829
NM_000276.4(OCRL):c.440-15G>A
NM_000276.4(OCRL):c.440G>C (p.Gly147Ala) rs2124402286
NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
NM_000276.4(OCRL):c.471T>A (p.Ser157=) rs747396791
NM_000276.4(OCRL):c.471T>G (p.Ser157=) rs747396791
NM_000276.4(OCRL):c.474G>A (p.Met158Ile)
NM_000276.4(OCRL):c.510T>C (p.Pro170=)
NM_000276.4(OCRL):c.516G>T (p.Gly172=)
NM_000276.4(OCRL):c.520C>T (p.His174Tyr)
NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)
NM_000276.4(OCRL):c.560+10A>T
NM_000276.4(OCRL):c.560+19C>T
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.560+8C>G
NM_000276.4(OCRL):c.561-17T>C
NM_000276.4(OCRL):c.561-8T>G
NM_000276.4(OCRL):c.561G>A (p.Met187Ile) rs916507337
NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)
NM_000276.4(OCRL):c.569G>A (p.Arg190His) rs776946722
NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)
NM_000276.4(OCRL):c.571G>C (p.Glu191Gln)
NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)
NM_000276.4(OCRL):c.577_578del (p.Glu193fs)
NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)
NM_000276.4(OCRL):c.594G>A (p.Glu198=)
NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)
NM_000276.4(OCRL):c.610_1244+348del
NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)
NM_000276.4(OCRL):c.639T>C (p.Asn213=)
NM_000276.4(OCRL):c.642C>G (p.Thr214=)
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) rs1936103770
NM_000276.4(OCRL):c.659_662del (p.Glu220fs) rs2124402634
NM_000276.4(OCRL):c.660G>A (p.Glu220=)
NM_000276.4(OCRL):c.662G>T (p.Gly221Val)
NM_000276.4(OCRL):c.663del (p.Leu222fs) rs2124402639
NM_000276.4(OCRL):c.666C>T (p.Leu222=)
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)
NM_000276.4(OCRL):c.676_677del (p.Ile226fs) rs1602782195
NM_000276.4(OCRL):c.678C>T (p.Ile226=)
NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)
NM_000276.4(OCRL):c.708C>T (p.Asn236=)
NM_000276.4(OCRL):c.722+11C>T
NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)
NM_000276.4(OCRL):c.723-14G>A
NM_000276.4(OCRL):c.723-15C>T
NM_000276.4(OCRL):c.723-1G>A rs2124404113
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.739del (p.Trp247fs) rs2124404136
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) rs1936131926
NM_000276.4(OCRL):c.746T>G (p.Val249Gly) rs1602783417
NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)
NM_000276.4(OCRL):c.75G>A (p.Arg25=)
NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)
NM_000276.4(OCRL):c.789C>T (p.Asn263=)
NM_000276.4(OCRL):c.78G>A (p.Glu26=)
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
NM_000276.4(OCRL):c.800A>G (p.Asn267Ser)
NM_000276.4(OCRL):c.801T>C (p.Asn267=)
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly) rs1936133194
NM_000276.4(OCRL):c.810T>C (p.Asp270=)
NM_000276.4(OCRL):c.820A>G (p.Ile274Val)
NM_000276.4(OCRL):c.820del (p.Ile274fs) rs2124404250
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000276.4(OCRL):c.825-19A>C
NM_000276.4(OCRL):c.825-20C>T
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.831A>G (p.Gln277=)
NM_000276.4(OCRL):c.834A>G (p.Glu278=)
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys) rs2124404743
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000276.4(OCRL):c.864C>T (p.Tyr288=)
NM_000276.4(OCRL):c.876G>C (p.Val292=)
NM_000276.4(OCRL):c.888A>G (p.Glu296=) rs2124404797
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter) rs2124404819
NM_000276.4(OCRL):c.932A>G (p.Tyr311Cys)
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) rs1936141520
NM_000276.4(OCRL):c.939+7C>T
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.940-11G>T
NM_000276.4(OCRL):c.940-15C>A
NM_000276.4(OCRL):c.940-4A>G rs2124405755
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del) rs727504056
NM_000276.4(OCRL):c.982G>A (p.Ala328Thr)
NM_000276.4(OCRL):c.984C>G (p.Ala328=)
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)
NM_000276.4(OCRL):c.986G>A (p.Arg329Lys)
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe) rs2124405824
NM_000276.4(OCRL):c.99C>G (p.Ala33=)
OCRL:exon 6-12 del
Single allele

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