ClinVar Miner

List of variants in gene OCRL reported as likely benign for Lowe syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 304
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val) rs773281269 0.00042
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) rs147629352 0.00024
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.351T>G (p.Ala117=) rs764237144 0.00011
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn) rs372298378 0.00011
NM_000276.4(OCRL):c.72C>G (p.Leu24=) rs772216523 0.00009
NM_000276.4(OCRL):c.1466+16C>T rs750356239 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.1713+6C>G rs191367057 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.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.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.1104C>T (p.Thr368=) rs1457897461 0.00001
NM_000276.4(OCRL):c.115T>C (p.Tyr39His) rs756670728 0.00001
NM_000276.4(OCRL):c.1603-12A>G rs1440624100 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.1944G>A (p.Ser648=) rs776881376 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.1056+19G>T
NM_000276.4(OCRL):c.1057-13C>A
NM_000276.4(OCRL):c.1057-19T>C
NM_000276.4(OCRL):c.1057-6T>G
NM_000276.4(OCRL):c.1057-7C>A
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.1110C>T (p.Cys370=)
NM_000276.4(OCRL):c.1113T>C (p.Ile371=)
NM_000276.4(OCRL):c.1122C>T (p.Ser374=)
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.120-5C>T
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)
NM_000276.4(OCRL):c.1242T>C (p.His414=)
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+20_1244+26dup
NM_000276.4(OCRL):c.1244+8G>T
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.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.1353C>T (p.Asp451=)
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.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.1389T>C (p.Phe463=)
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)
NM_000276.4(OCRL):c.1419C>T (p.Phe473=)
NM_000276.4(OCRL):c.1449A>C (p.Thr483=)
NM_000276.4(OCRL):c.1454G>A (p.Arg485Gln)
NM_000276.4(OCRL):c.1466+12A>G
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.1467-4dup
NM_000276.4(OCRL):c.1470G>A (p.Gly490=)
NM_000276.4(OCRL):c.1479G>A (p.Arg493=)
NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)
NM_000276.4(OCRL):c.1518A>G (p.Thr506=)
NM_000276.4(OCRL):c.1526A>C (p.Asn509Thr)
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
NM_000276.4(OCRL):c.1566C>T (p.Ser522=)
NM_000276.4(OCRL):c.1584C>T (p.Ser528=)
NM_000276.4(OCRL):c.1602+15G>T
NM_000276.4(OCRL):c.1602+17A>T rs2124412959
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.1626G>A (p.Arg542=)
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)
NM_000276.4(OCRL):c.1653A>G (p.Val551=)
NM_000276.4(OCRL):c.165C>A (p.Ile55=)
NM_000276.4(OCRL):c.1666A>C (p.Arg556=)
NM_000276.4(OCRL):c.1710G>A (p.Arg570=)
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.1714-4C>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.1758G>A (p.Lys586=)
NM_000276.4(OCRL):c.1764G>A (p.Gln588=)
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)
NM_000276.4(OCRL):c.1821C>T (p.Asp607=)
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.1880-19A>G
NM_000276.4(OCRL):c.1880-7A>G
NM_000276.4(OCRL):c.1880-9A>C
NM_000276.4(OCRL):c.1887A>G (p.Thr629=)
NM_000276.4(OCRL):c.1893C>A (p.Asp631Glu)
NM_000276.4(OCRL):c.1905T>C (p.Asp635=)
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.1974C>T (p.Val658=) rs781410604
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.200-4T>C
NM_000276.4(OCRL):c.200-7C>T
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.2058T>C (p.Ala686=)
NM_000276.4(OCRL):c.207A>G (p.Glu69=)
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.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>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+20C>T
NM_000276.4(OCRL):c.2257-20C>A
NM_000276.4(OCRL):c.2277T>G (p.Pro759=)
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.238+19G>A
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.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+8C>T
NM_000276.4(OCRL):c.2470-16C>G
NM_000276.4(OCRL):c.2470-9T>A
NM_000276.4(OCRL):c.2478C>T (p.Ser826=) rs1936564599
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.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.2581+15T>G
NM_000276.4(OCRL):c.2581+16G>A
NM_000276.4(OCRL):c.2581+19A>C
NM_000276.4(OCRL):c.2582-10C>T
NM_000276.4(OCRL):c.2582-18C>T
NM_000276.4(OCRL):c.2586T>A (p.Thr862=)
NM_000276.4(OCRL):c.2607G>A (p.Leu869=)
NM_000276.4(OCRL):c.2613T>C (p.Pro871=)
NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)
NM_000276.4(OCRL):c.265G>C (p.Asp89His)
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.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.350-10A>C
NM_000276.4(OCRL):c.350-14C>T rs2124401607
NM_000276.4(OCRL):c.350-9TC[2] rs1936081749
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.40-8G>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.431T>C (p.Val144Ala)
NM_000276.4(OCRL):c.432T>C (p.Val144=)
NM_000276.4(OCRL):c.439+10A>T
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.440-15G>A
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.560+10A>T
NM_000276.4(OCRL):c.560+19C>T
NM_000276.4(OCRL):c.560+8C>G
NM_000276.4(OCRL):c.561-17T>C
NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)
NM_000276.4(OCRL):c.594G>A (p.Glu198=)
NM_000276.4(OCRL):c.639T>C (p.Asn213=)
NM_000276.4(OCRL):c.642C>G (p.Thr214=)
NM_000276.4(OCRL):c.660G>A (p.Glu220=)
NM_000276.4(OCRL):c.666C>T (p.Leu222=)
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)
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.723-14G>A
NM_000276.4(OCRL):c.723-15C>T
NM_000276.4(OCRL):c.75G>A (p.Arg25=)
NM_000276.4(OCRL):c.789C>T (p.Asn263=)
NM_000276.4(OCRL):c.78G>A (p.Glu26=)
NM_000276.4(OCRL):c.800A>G (p.Asn267Ser)
NM_000276.4(OCRL):c.801T>C (p.Asn267=)
NM_000276.4(OCRL):c.810T>C (p.Asp270=)
NM_000276.4(OCRL):c.820A>G (p.Ile274Val)
NM_000276.4(OCRL):c.825-19A>C
NM_000276.4(OCRL):c.825-20C>T
NM_000276.4(OCRL):c.831A>G (p.Gln277=)
NM_000276.4(OCRL):c.834A>G (p.Glu278=)
NM_000276.4(OCRL):c.876G>C (p.Val292=)
NM_000276.4(OCRL):c.888A>G (p.Glu296=) rs2124404797
NM_000276.4(OCRL):c.939+7C>T
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.984C>G (p.Ala328=)
NM_000276.4(OCRL):c.99C>G (p.Ala33=)

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