ClinVar Miner

List of variants in gene OFD1 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00023
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu) rs200760486 0.00012
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) rs375698090 0.00009
NM_003611.3(OFD1):c.1620C>T (p.Ala540=) rs142659184 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 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.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.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.432A>G (p.Leu144=) rs759705433 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln) rs147104722 0.00005
NM_003611.3(OFD1):c.2010A>G (p.Pro670=) rs772960582 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 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.2523C>T (p.Gly841=) rs757258869 0.00004
NM_003611.3(OFD1):c.2757+14C>T rs755443772 0.00004
NM_003611.3(OFD1):c.2991C>T (p.Val997=) rs373088434 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.1839T>C (p.Thr613=) rs760463802 0.00003
NM_003611.3(OFD1):c.2100G>A (p.Glu700=) rs780655531 0.00003
NM_003611.3(OFD1):c.2261-8C>T rs374969350 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 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.2938A>C (p.Lys980Gln) rs748952285 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.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003611.3(OFD1):c.1542+13C>T rs1253138718 0.00002
NM_003611.3(OFD1):c.2169G>A (p.Ser723=) rs984001995 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 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.655-13G>C rs753706475 0.00002
NM_003611.3(OFD1):c.816C>T (p.His272=) rs748363967 0.00002
NM_003611.3(OFD1):c.1317A>G (p.Leu439=) rs907245341 0.00001
NM_003611.3(OFD1):c.1365A>G (p.Lys455=) rs1395917057 0.00001
NM_003611.3(OFD1):c.1497G>A (p.Glu499=) rs912035192 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.1737G>A (p.Val579=) rs766430580 0.00001
NM_003611.3(OFD1):c.1785A>G (p.Lys595=) rs1225998238 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.2136C>T (p.Asp712=) rs775705991 0.00001
NM_003611.3(OFD1):c.2148A>G (p.Ala716=) rs1183295175 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.2710G>A (p.Val904Ile) rs775451384 0.00001
NM_003611.3(OFD1):c.2970G>A (p.Thr990=) rs1602946302 0.00001
NM_003611.3(OFD1):c.345T>G (p.Ile115Met) rs751918276 0.00001
NM_003611.3(OFD1):c.387A>G (p.Ser129=) rs1471986431 0.00001
NM_003611.3(OFD1):c.417T>C (p.Phe139=) rs770850686 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.655-9A>G rs758500578 0.00001
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732 0.00001
NM_003611.3(OFD1):c.729C>T (p.Thr243=) rs1254615288 0.00001
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln) rs146279923 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1055+10T>C
NM_003611.3(OFD1):c.1055+12G>A
NM_003611.3(OFD1):c.1056-11C>T
NM_003611.3(OFD1):c.1056-15C>T
NM_003611.3(OFD1):c.1056-21_1056-18del
NM_003611.3(OFD1):c.112-18_112-13del
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1129+10G>C
NM_003611.3(OFD1):c.1129+11G>A
NM_003611.3(OFD1):c.1129+12G>C
NM_003611.3(OFD1):c.1129+20T>C
NM_003611.3(OFD1):c.1129+9dup rs1384741515
NM_003611.3(OFD1):c.1130-12C>T
NM_003611.3(OFD1):c.1130-13G>T rs1408701141
NM_003611.3(OFD1):c.1130-21A>T
NM_003611.3(OFD1):c.1130-22A>C
NM_003611.3(OFD1):c.1130-4dup rs759385204
NM_003611.3(OFD1):c.1194A>G (p.Gln398=)
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
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
NM_003611.3(OFD1):c.1401T>A (p.Arg467=)
NM_003611.3(OFD1):c.1404C>A (p.Leu468=)
NM_003611.3(OFD1):c.1411+11_1411+12dup
NM_003611.3(OFD1):c.1411+15T>C rs2147027201
NM_003611.3(OFD1):c.1411+8T>G
NM_003611.3(OFD1):c.1412-11T>A
NM_003611.3(OFD1):c.1412-6T>C
NM_003611.3(OFD1):c.1412-7T>G rs2147032358
NM_003611.3(OFD1):c.1416A>G (p.Leu472=)
NM_003611.3(OFD1):c.1425G>C (p.Pro475=)
NM_003611.3(OFD1):c.142T>C (p.Leu48=)
NM_003611.3(OFD1):c.1443C>G (p.Val481=)
NM_003611.3(OFD1):c.1467C>T (p.Ala489=)
NM_003611.3(OFD1):c.1500C>T (p.Phe500=)
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
NM_003611.3(OFD1):c.1542+19C>T rs2147033118
NM_003611.3(OFD1):c.1543-14C>T rs2147036091
NM_003611.3(OFD1):c.1543-4T>G rs2147036166
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
NM_003611.3(OFD1):c.1654+17C>T rs2047798661
NM_003611.3(OFD1):c.1655-4G>A
NM_003611.3(OFD1):c.1655-9A>T
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=)
NM_003611.3(OFD1):c.1768T>C (p.Leu590=) rs2147047726
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
NM_003611.3(OFD1):c.1992A>T (p.Pro664=)
NM_003611.3(OFD1):c.1993C>T (p.Leu665=) rs1742426055
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) rs757923355
NM_003611.3(OFD1):c.2166C>T (p.Ala722=)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
NM_003611.3(OFD1):c.2178C>T (p.Arg726=)
NM_003611.3(OFD1):c.2190C>T (p.Ser730=) rs2147049749
NM_003611.3(OFD1):c.2202C>G (p.Leu734=)
NM_003611.3(OFD1):c.2209A>G (p.Thr737Ala)
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
NM_003611.3(OFD1):c.2261-6C>T
NM_003611.3(OFD1):c.2261-7A>G
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
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.229T>C (p.Leu77=)
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
NM_003611.3(OFD1):c.2373G>A (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2373G>T (p.Pro791=) rs369277849
NM_003611.3(OFD1):c.2387+12G>A
NM_003611.3(OFD1):c.2387+16T>G
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2489-10C>T
NM_003611.3(OFD1):c.2489-13G>A
NM_003611.3(OFD1):c.2499C>T (p.Asn833=) rs2147066586
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
NM_003611.3(OFD1):c.2514G>A (p.Leu838=) rs1443995525
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
NM_003611.3(OFD1):c.2595C>T (p.His865=)
NM_003611.3(OFD1):c.2599+8C>T
NM_003611.3(OFD1):c.2600-17_2600-9del
NM_003611.3(OFD1):c.2600-5A>G rs1555908520
NM_003611.3(OFD1):c.2600-6_2600-3dup
NM_003611.3(OFD1):c.2600-7del rs761400373
NM_003611.3(OFD1):c.2600-9T>A
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.2647C>A (p.Arg883=) rs149790559
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
NM_003611.3(OFD1):c.2701C>T (p.Leu901=) rs773811355
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
NM_003611.3(OFD1):c.2758-4A>G rs1555908820
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
NM_003611.3(OFD1):c.2784T>A (p.Ile928=) rs2147086051
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
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.2928+7G>A
NM_003611.3(OFD1):c.2929-13T>C
NM_003611.3(OFD1):c.2929-17C>T rs2147088855
NM_003611.3(OFD1):c.2929-20C>T
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=)
NM_003611.3(OFD1):c.2991C>G (p.Val997=) rs373088434
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.2996+7G>C
NM_003611.3(OFD1):c.2997-13T>C
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
NM_003611.3(OFD1):c.3024A>C (p.Leu1008=)
NM_003611.3(OFD1):c.312+12C>G
NM_003611.3(OFD1):c.313-16C>A
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
NM_003611.3(OFD1):c.363C>A (p.Ser121=) rs2146928280
NM_003611.3(OFD1):c.381+10C>G
NM_003611.3(OFD1):c.381+20G>A
NM_003611.3(OFD1):c.393T>G (p.Ser131=) rs2146928832
NM_003611.3(OFD1):c.412+10G>T rs201837087
NM_003611.3(OFD1):c.412+9C>T
NM_003611.3(OFD1):c.413-11_413-10del rs1192195829
NM_003611.3(OFD1):c.413-9del rs2146959237
NM_003611.3(OFD1):c.485A>G (p.Gln162Arg)
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.518-17dup
NM_003611.3(OFD1):c.518-19A>G
NM_003611.3(OFD1):c.651A>G (p.Gln217=)
NM_003611.3(OFD1):c.655-9A>C rs758500578
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
NM_003611.3(OFD1):c.723G>A (p.Glu241=) rs2146969853
NM_003611.3(OFD1):c.870A>G (p.Leu290=)
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
NM_003611.3(OFD1):c.909G>A (p.Leu303=) rs2047424118
NM_003611.3(OFD1):c.935+8A>T
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>G (p.Thr325=) rs2047490824

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