ClinVar Miner

List of variants reported as likely benign for Joubert syndrome; Orofaciodigital syndrome I by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu) rs200760486 0.00012
NM_003611.3(OFD1):c.264A>G (p.Glu88=) rs138623824 0.00011
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) rs375698090 0.00009
NM_003611.3(OFD1):c.360T>G (p.Thr120=) rs199934720 0.00009
NM_003611.3(OFD1):c.1620C>T (p.Ala540=) rs142659184 0.00007
NM_003611.3(OFD1):c.3024A>G (p.Leu1008=) rs1015323092 0.00007
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941 0.00007
NM_003611.3(OFD1):c.1467C>T (p.Ala489=) rs1366105128 0.00006
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491 0.00006
NM_003611.3(OFD1):c.2139C>T (p.Val713=) rs764423950 0.00006
NM_003611.3(OFD1):c.2757+8G>A rs766626739 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.2010A>G (p.Pro670=) rs772960582 0.00005
NM_003611.3(OFD1):c.2489-13G>A rs377737395 0.00005
NM_003611.3(OFD1):c.270A>C (p.Ser90=) rs372080814 0.00005
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=) rs750626140 0.00005
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) rs1374240720 0.00004
NM_003611.3(OFD1):c.1622A>T (p.Asp541Val) rs369907952 0.00004
NM_003611.3(OFD1):c.2209A>G (p.Thr737Ala) rs778936071 0.00004
NM_003611.3(OFD1):c.2991C>T (p.Val997=) rs373088434 0.00004
NM_003611.3(OFD1):c.1566G>A (p.Lys522=) rs758613947 0.00003
NM_003611.3(OFD1):c.1839T>C (p.Thr613=) rs760463802 0.00003
NM_003611.3(OFD1):c.1926C>T (p.Ala642=) rs757775981 0.00003
NM_003611.3(OFD1):c.2100G>A (p.Glu700=) rs780655531 0.00003
NM_003611.3(OFD1):c.2166C>T (p.Ala722=) rs1436893694 0.00003
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 0.00003
NM_003611.3(OFD1):c.2538C>T (p.Ala846=) rs201362700 0.00003
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val) rs761100130 0.00003
NM_003611.3(OFD1):c.2928+7G>A rs912239987 0.00003
NM_003611.3(OFD1):c.2929-20C>T rs772432527 0.00003
NM_003611.3(OFD1):c.412+10G>A rs201837087 0.00003
NM_003611.3(OFD1):c.517+8T>C rs373361154 0.00003
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00003
NM_003611.3(OFD1):c.1416A>G (p.Leu472=) rs1170322495 0.00002
NM_003611.3(OFD1):c.1539C>T (p.Asp513=) rs1480093399 0.00002
NM_003611.3(OFD1):c.1542+13C>T rs1253138718 0.00002
NM_003611.3(OFD1):c.1545T>C (p.Ile515=) rs371692547 0.00002
NM_003611.3(OFD1):c.1794C>T (p.Asn598=) rs749765629 0.00002
NM_003611.3(OFD1):c.2169G>A (p.Ser723=) rs984001995 0.00002
NM_003611.3(OFD1):c.2261-8C>T rs374969350 0.00002
NM_003611.3(OFD1):c.2387+12G>A rs200193920 0.00002
NM_003611.3(OFD1):c.2489-11G>A rs766174993 0.00002
NM_003611.3(OFD1):c.2541G>A (p.Gly847=) rs780435482 0.00002
NM_003611.3(OFD1):c.2757+14C>T rs755443772 0.00002
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln) rs748952285 0.00002
NM_003611.3(OFD1):c.655-13G>C rs753706475 0.00002
NM_003611.3(OFD1):c.816C>T (p.His272=) rs748363967 0.00002
NM_003611.3(OFD1):c.1194A>G (p.Gln398=) rs777485551 0.00001
NM_003611.3(OFD1):c.12+18T>A rs1269853741 0.00001
NM_003611.3(OFD1):c.13-7C>A rs761622748 0.00001
NM_003611.3(OFD1):c.1317A>G (p.Leu439=) rs907245341 0.00001
NM_003611.3(OFD1):c.1401T>A (p.Arg467=) rs1171109174 0.00001
NM_003611.3(OFD1):c.156A>T (p.Val52=) rs779489279 0.00001
NM_003611.3(OFD1):c.1617T>G (p.Val539=) rs1156292139 0.00001
NM_003611.3(OFD1):c.1654+13T>A rs756014664 0.00001
NM_003611.3(OFD1):c.1654+17C>T rs2047798661 0.00001
NM_003611.3(OFD1):c.1655-4G>A rs2047870301 0.00001
NM_003611.3(OFD1):c.1655-9A>T rs770414421 0.00001
NM_003611.3(OFD1):c.1737G>A (p.Val579=) rs766430580 0.00001
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) rs1225998238 0.00001
NM_003611.3(OFD1):c.1800A>G (p.Leu600=) rs2047876255 0.00001
NM_003611.3(OFD1):c.1848G>A (p.Val616=) rs1200724381 0.00001
NM_003611.3(OFD1):c.1947C>T (p.Phe649=) rs771499971 0.00001
NM_003611.3(OFD1):c.198G>A (p.Gly66=) rs776103115 0.00001
NM_003611.3(OFD1):c.2028G>A (p.Leu676=) rs775904671 0.00001
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) rs757923355 0.00001
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) rs775705991 0.00001
NM_003611.3(OFD1):c.2148A>G (p.Ala716=) rs1183295175 0.00001
NM_003611.3(OFD1):c.2178C>T (p.Arg726=) rs758869308 0.00001
NM_003611.3(OFD1):c.2238C>T (p.Leu746=) rs776930595 0.00001
NM_003611.3(OFD1):c.2261-7A>G rs2047909079 0.00001
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp) rs190688700 0.00001
NM_003611.3(OFD1):c.229T>C (p.Leu77=) rs762758503 0.00001
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 0.00001
NM_003611.3(OFD1):c.2373G>A (p.Pro791=) rs369277849 0.00001
NM_003611.3(OFD1):c.2387+16T>G rs1266969391 0.00001
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) rs759468353 0.00001
NM_003611.3(OFD1):c.255T>C (p.Cys85=) rs766158020 0.00001
NM_003611.3(OFD1):c.2600-5A>G rs1555908520 0.00001
NM_003611.3(OFD1):c.2710G>A (p.Val904Ile) rs775451384 0.00001
NM_003611.3(OFD1):c.2778G>T (p.Leu926=) rs2518998297 0.00001
NM_003611.3(OFD1):c.2811A>G (p.Glu937=) rs775256752 0.00001
NM_003611.3(OFD1):c.2970G>A (p.Thr990=) rs1602946302 0.00001
NM_003611.3(OFD1):c.2996+10T>C rs769127095 0.00001
NM_003611.3(OFD1):c.312+12C>G rs369745391 0.00001
NM_003611.3(OFD1):c.345T>G (p.Ile115Met) rs751918276 0.00001
NM_003611.3(OFD1):c.381+20G>A rs2046980692 0.00001
NM_003611.3(OFD1):c.387A>G (p.Ser129=) rs1471986431 0.00001
NM_003611.3(OFD1):c.412+9C>T rs369359280 0.00001
NM_003611.3(OFD1):c.413-9del rs2146959237 0.00001
NM_003611.3(OFD1):c.417T>C (p.Phe139=) rs770850686 0.00001
NM_003611.3(OFD1):c.432A>G (p.Leu144=) rs759705433 0.00001
NM_003611.3(OFD1):c.495G>C (p.Ser165=) rs764608728 0.00001
NM_003611.3(OFD1):c.518-5A>G rs754852025 0.00001
NM_003611.3(OFD1):c.579C>T (p.Phe193=) rs780256374 0.00001
NM_003611.3(OFD1):c.651A>G (p.Gln217=) rs762452588 0.00001
NM_003611.3(OFD1):c.655-9A>G rs758500578 0.00001
NM_003611.3(OFD1):c.678G>A (p.Glu226=) rs2047314719 0.00001
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868 0.00001
NM_003611.3(OFD1):c.729C>T (p.Thr243=) rs1254615288 0.00001
NM_003611.3(OFD1):c.829-16A>G rs886658439 0.00001
NM_003611.3(OFD1):c.935+8A>T rs1197775929 0.00001
NM_003611.3(OFD1):c.1053A>G (p.Leu351=)
NM_003611.3(OFD1):c.1055+10T>C rs2518869033
NM_003611.3(OFD1):c.1055+12G>A rs1202325681
NM_003611.3(OFD1):c.1056-11C>T rs1462883510
NM_003611.3(OFD1):c.1056-15C>T rs959217100
NM_003611.3(OFD1):c.1056-21_1056-18del rs746956954
NM_003611.3(OFD1):c.1056-9G>A
NM_003611.3(OFD1):c.105A>G (p.Thr35=) rs1331948057
NM_003611.3(OFD1):c.112-13T>C
NM_003611.3(OFD1):c.112-18_112-13del rs2046870165
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1129+10G>C rs1369882775
NM_003611.3(OFD1):c.1129+11G>A rs754508937
NM_003611.3(OFD1):c.1129+12G>C rs1475647646
NM_003611.3(OFD1):c.1129+20T>C rs2518886599
NM_003611.3(OFD1):c.1129+9dup rs1384741515
NM_003611.3(OFD1):c.1130-12C>T rs2518897935
NM_003611.3(OFD1):c.1130-13G>T rs1408701141
NM_003611.3(OFD1):c.1130-21A>T rs2518897785
NM_003611.3(OFD1):c.1130-22A>C rs2518897760
NM_003611.3(OFD1):c.1130-4dup rs759385204
NM_003611.3(OFD1):c.1130-9T>G
NM_003611.3(OFD1):c.114A>G (p.Thr38=)
NM_003611.3(OFD1):c.12+10C>A rs1301430671
NM_003611.3(OFD1):c.12+20C>T
NM_003611.3(OFD1):c.12+8C>T rs2518740649
NM_003611.3(OFD1):c.1221+14A>T rs2147016910
NM_003611.3(OFD1):c.1221+7_1221+8del rs2147016859
NM_003611.3(OFD1):c.1222-15C>G rs768026342
NM_003611.3(OFD1):c.1242A>G (p.Lys414=)
NM_003611.3(OFD1):c.126C>T (p.Asn42=) rs2046872548
NM_003611.3(OFD1):c.1287A>G (p.Glu429=) rs2518910385
NM_003611.3(OFD1):c.13-20A>G
NM_003611.3(OFD1):c.1318C>T (p.Leu440=) rs758206214
NM_003611.3(OFD1):c.1356A>G (p.Lys452=) rs2518910999
NM_003611.3(OFD1):c.1380G>A (p.Glu460=) rs2518911152
NM_003611.3(OFD1):c.1404C>A (p.Leu468=) rs2518911330
NM_003611.3(OFD1):c.1411+11_1411+12dup rs2518911520
NM_003611.3(OFD1):c.1411+13_1411+15del
NM_003611.3(OFD1):c.1411+15T>C rs2147027201
NM_003611.3(OFD1):c.1411+8T>G rs2518911498
NM_003611.3(OFD1):c.1412-11T>A rs1602888650
NM_003611.3(OFD1):c.1412-6T>C rs2518918058
NM_003611.3(OFD1):c.1412-7T>G rs2147032358
NM_003611.3(OFD1):c.1425G>C (p.Pro475=) rs751559997
NM_003611.3(OFD1):c.1425G>T (p.Pro475=) rs751559997
NM_003611.3(OFD1):c.142T>C (p.Leu48=) rs1273121543
NM_003611.3(OFD1):c.1443C>G (p.Val481=) rs2518918397
NM_003611.3(OFD1):c.1452A>G (p.Lys484=)
NM_003611.3(OFD1):c.1488G>A (p.Glu496=)
NM_003611.3(OFD1):c.1497G>A (p.Glu499=) rs912035192
NM_003611.3(OFD1):c.1503A>G (p.Glu501=)
NM_003611.3(OFD1):c.1542+19C>T rs2147033118
NM_003611.3(OFD1):c.1543-14C>T rs2147036091
NM_003611.3(OFD1):c.1543-20C>T
NM_003611.3(OFD1):c.1543-4T>G rs2147036166
NM_003611.3(OFD1):c.1662G>A (p.Glu554=) rs1238971253
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1743C>T (p.Cys581=) rs983722470
NM_003611.3(OFD1):c.1768T>C (p.Leu590=) rs2147047726
NM_003611.3(OFD1):c.1968C>T (p.Val656=) rs2518939079
NM_003611.3(OFD1):c.1993C>T (p.Leu665=) rs1742426055
NM_003611.3(OFD1):c.2043C>T (p.Asn681=) rs2518939615
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.216C>T (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2190C>T (p.Ser730=) rs2147049749
NM_003611.3(OFD1):c.2202C>G (p.Leu734=) rs368465917
NM_003611.3(OFD1):c.2232A>G (p.Arg744=)
NM_003611.3(OFD1):c.2261-6C>T rs769923969
NM_003611.3(OFD1):c.2268C>G (p.Gly756=) rs2147052123
NM_003611.3(OFD1):c.2289C>G (p.Pro763=) rs947500861
NM_003611.3(OFD1):c.2313C>G (p.Pro771=)
NM_003611.3(OFD1):c.2328T>A (p.Thr776=) rs2518946830
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2387+20T>G
NM_003611.3(OFD1):c.2489-10C>T rs2518970725
NM_003611.3(OFD1):c.2489-8T>C
NM_003611.3(OFD1):c.2499C>T (p.Asn833=) rs2147066586
NM_003611.3(OFD1):c.2508G>A (p.Arg836=) rs2048023499
NM_003611.3(OFD1):c.2514G>A (p.Leu838=) rs1443995525
NM_003611.3(OFD1):c.2586A>G (p.Ser862=) rs2518971671
NM_003611.3(OFD1):c.2595C>T (p.His865=) rs2518971763
NM_003611.3(OFD1):c.2599+16G>A
NM_003611.3(OFD1):c.2599+8C>T rs772789615
NM_003611.3(OFD1):c.2600-17_2600-9del rs2518989879
NM_003611.3(OFD1):c.2600-6_2600-3dup rs2518990077
NM_003611.3(OFD1):c.2600-7del rs761400373
NM_003611.3(OFD1):c.2600-9T>A rs2518989993
NM_003611.3(OFD1):c.2647C>A (p.Arg883=) rs149790559
NM_003611.3(OFD1):c.2655G>A (p.Gln885=) rs2518990672
NM_003611.3(OFD1):c.2701C>T (p.Leu901=) rs773811355
NM_003611.3(OFD1):c.2706A>G (p.Gln902=)
NM_003611.3(OFD1):c.2721G>A (p.Arg907=) rs1291554223
NM_003611.3(OFD1):c.2725C>A (p.Arg909=) rs1060500123
NM_003611.3(OFD1):c.2784T>A (p.Ile928=) rs2147086051
NM_003611.3(OFD1):c.2880A>G (p.Lys960=) rs766349657
NM_003611.3(OFD1):c.288A>G (p.Pro96=) rs2146913731
NM_003611.3(OFD1):c.2895C>T (p.Ile965=) rs2147086446
NM_003611.3(OFD1):c.2928+13T>C rs2147086599
NM_003611.3(OFD1):c.2928+16_2928+22del rs2147086617
NM_003611.3(OFD1):c.2929-13T>C rs2519003501
NM_003611.3(OFD1):c.2929-17C>T rs2147088855
NM_003611.3(OFD1):c.2929-6A>G rs2147088923
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.2959C>T (p.Leu987=) rs148543618
NM_003611.3(OFD1):c.2970G>T (p.Thr990=) rs1602946302
NM_003611.3(OFD1):c.2971C>T (p.Leu991=)
NM_003611.3(OFD1):c.2991C>G (p.Val997=) rs373088434
NM_003611.3(OFD1):c.2996+7G>C rs2519004305
NM_003611.3(OFD1):c.2997-13T>C rs2519007552
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=) rs2519007870
NM_003611.3(OFD1):c.313-16C>A rs2518776226
NM_003611.3(OFD1):c.333A>G (p.Leu111=)
NM_003611.3(OFD1):c.336A>G (p.Leu112=) rs2518776678
NM_003611.3(OFD1):c.363C>A (p.Ser121=) rs2146928280
NM_003611.3(OFD1):c.381+10C>G rs745656062
NM_003611.3(OFD1):c.382-14T>C
NM_003611.3(OFD1):c.382-17A>C
NM_003611.3(OFD1):c.382-6T>C
NM_003611.3(OFD1):c.393T>G (p.Ser131=) rs2146928832
NM_003611.3(OFD1):c.39G>T (p.Val13=)
NM_003611.3(OFD1):c.412+10G>T rs201837087
NM_003611.3(OFD1):c.413-11_413-10del rs1192195829
NM_003611.3(OFD1):c.42G>A (p.Leu14=) rs1011201910
NM_003611.3(OFD1):c.495G>T (p.Ser165=) rs764608728
NM_003611.3(OFD1):c.518-17dup rs2518833682
NM_003611.3(OFD1):c.518-19A>G rs2518833656
NM_003611.3(OFD1):c.561C>T (p.Tyr187=)
NM_003611.3(OFD1):c.586T>C (p.Leu196=)
NM_003611.3(OFD1):c.636G>C (p.Arg212=)
NM_003611.3(OFD1):c.654+17dup
NM_003611.3(OFD1):c.655-9A>C rs758500578
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.723G>A (p.Glu241=) rs2146969853
NM_003611.3(OFD1):c.886C>T (p.Leu296=)
NM_003611.3(OFD1):c.894A>C (p.Gly298=) rs2518857605
NM_003611.3(OFD1):c.903A>G (p.Ala301=) rs754240752
NM_003611.3(OFD1):c.909G>A (p.Leu303=) rs2047424118
NM_003611.3(OFD1):c.936-17A>G rs2146992165
NM_003611.3(OFD1):c.954A>G (p.Glu318=) rs2047489521
NM_003611.3(OFD1):c.975T>C (p.Thr325=)
NM_003611.3(OFD1):c.975T>G (p.Thr325=) rs2047490824

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