ClinVar Miner

List of variants in gene OFD1 studied for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 591
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
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.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
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.1654+9C>T rs200007045 0.00044
NM_003611.3(OFD1):c.1543-19C>G rs201761130 0.00041
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.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1129+8T>A rs199572133 0.00023
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.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.2488+13A>G rs369270604 0.00017
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile) rs148543618 0.00014
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) rs140561107 0.00012
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu) rs200760486 0.00012
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) rs746612831 0.00011
NM_003611.3(OFD1):c.2600-4T>G rs753195130 0.00011
NM_003611.3(OFD1):c.780C>T (p.Leu260=) rs368900892 0.00011
NM_003611.3(OFD1):c.781G>A (p.Val261Ile) rs149733425 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn) rs758883184 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003611.3(OFD1):c.935+12A>G rs199773671 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.476T>C (p.Met159Thr) rs141708295 0.00009
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003611.3(OFD1):c.679A>G (p.Ile227Val) rs748477774 0.00008
NM_003611.3(OFD1):c.1620C>T (p.Ala540=) rs142659184 0.00007
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr) rs201230660 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_003611.3(OFD1):c.2260+15C>G rs768776950 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.1930C>T (p.Arg644Cys) rs185831378 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.2489-17A>C rs182042414 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.1469A>G (p.Glu490Gly) rs754484224 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.1622A>T (p.Asp541Val) rs369907952 0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) rs761915805 0.00004
NM_003611.3(OFD1):c.2523C>T (p.Gly841=) rs757258869 0.00004
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys) rs770634301 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.2030A>T (p.Glu677Val) rs370183911 0.00003
NM_003611.3(OFD1):c.2100G>A (p.Glu700=) rs780655531 0.00003
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782 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.2953G>A (p.Gly985Ser) rs757837343 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 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.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.1542+13C>T rs1253138718 0.00002
NM_003611.3(OFD1):c.1639A>G (p.Lys547Glu) rs1054393663 0.00002
NM_003611.3(OFD1):c.1646C>T (p.Thr549Ile) rs1275319013 0.00002
NM_003611.3(OFD1):c.1703G>A (p.Arg568His) rs376012267 0.00002
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala) rs775062213 0.00002
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184 0.00002
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481 0.00002
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545 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.2197C>T (p.Arg733Cys) rs1376239977 0.00002
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) rs1355239331 0.00002
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala) rs1382696572 0.00002
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly) rs759933503 0.00002
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser) rs1602907726 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.2788A>T (p.Ile930Leu) rs745495276 0.00002
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) rs1458317780 0.00002
NM_003611.3(OFD1):c.382G>C (p.Val128Leu) rs766600036 0.00002
NM_003611.3(OFD1):c.569G>A (p.Arg190His) rs150560046 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.655-13G>C rs753706475 0.00002
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) rs780055525 0.00002
NM_003611.3(OFD1):c.710A>G (p.Lys237Arg) rs1179498927 0.00002
NM_003611.3(OFD1):c.816C>T (p.His272=) rs748363967 0.00002
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1081T>C (p.Tyr361His) rs991181381 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn) rs373202088 0.00001
NM_003611.3(OFD1):c.1205G>A (p.Arg402His) rs1283023888 0.00001
NM_003611.3(OFD1):c.1278G>A (p.Met426Ile) rs756825275 0.00001
NM_003611.3(OFD1):c.1300A>T (p.Met434Leu) rs1191893961 0.00001
NM_003611.3(OFD1):c.1317A>G (p.Leu439=) rs907245341 0.00001
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.1479A>C (p.Ile493=) rs746039988 0.00001
NM_003611.3(OFD1):c.1497G>A (p.Glu499=) rs912035192 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_003611.3(OFD1):c.1543-3C>T rs1427426943 0.00001
NM_003611.3(OFD1):c.156A>T (p.Val52=) rs779489279 0.00001
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580 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.1699G>A (p.Asp567Asn) rs760663674 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.1960C>T (p.Arg654Trp) rs779709673 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.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) rs775705991 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 0.00001
NM_003611.3(OFD1):c.2148A>G (p.Ala716=) rs1183295175 0.00001
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) rs780934031 0.00001
NM_003611.3(OFD1):c.223A>G (p.Asn75Asp) rs760347311 0.00001
NM_003611.3(OFD1):c.2388-3T>C rs1301197444 0.00001
NM_003611.3(OFD1):c.2467G>A (p.Glu823Lys) rs1282756613 0.00001
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) rs759468353 0.00001
NM_003611.3(OFD1):c.2514G>C (p.Leu838Phe) rs1443995525 0.00001
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala) rs201180146 0.00001
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg) rs1178559792 0.00001
NM_003611.3(OFD1):c.2559C>T (p.Asp853=) rs1398505825 0.00001
NM_003611.3(OFD1):c.255T>C (p.Cys85=) rs766158020 0.00001
NM_003611.3(OFD1):c.2598A>C (p.Pro866=) rs2048026816 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.2987A>G (p.Lys996Arg) rs777790587 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.313G>A (p.Val105Ile) rs772018123 0.00001
NM_003611.3(OFD1):c.345T>G (p.Ile115Met) rs751918276 0.00001
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile) rs777207192 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.797G>C (p.Ser266Thr) rs1354561362 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003611.3(OFD1):c.972A>G (p.Ile324Met) rs2047490451 0.00001
NM_003611.3(OFD1):c.984T>G (p.Leu328=) rs61734977 0.00001
NC_000023.10:g.(?_13753081)_(13765093_?)del
NC_000023.10:g.(?_13753185)_(13787232_?)dup
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1005A>G (p.Ile335Met)
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly) rs758903488
NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)
NM_003611.3(OFD1):c.1055+10T>C
NM_003611.3(OFD1):c.1055+12G>A
NM_003611.3(OFD1):c.1055A>C (p.Lys352Thr)
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg) rs779494159
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.1056-3C>G
NM_003611.3(OFD1):c.1066G>C (p.Glu356Gln)
NM_003611.3(OFD1):c.1073A>G (p.Lys358Arg)
NM_003611.3(OFD1):c.1086C>G (p.Ile362Met)
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1100G>C (p.Arg367Pro)
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)
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+15dup
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.1141C>A (p.His381Asn)
NM_003611.3(OFD1):c.1141C>G (p.His381Asp)
NM_003611.3(OFD1):c.1155G>T (p.Glu385Asp) rs2147016302
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)
NM_003611.3(OFD1):c.1194A>G (p.Gln398=)
NM_003611.3(OFD1):c.1196C>G (p.Ser399Cys)
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1220_1221+1del
NM_003611.3(OFD1):c.1221+14A>T rs2147016910
NM_003611.3(OFD1):c.1221+7_1221+8del rs2147016859
NM_003611.3(OFD1):c.1221_1221+13del rs2147016815
NM_003611.3(OFD1):c.1222-15C>G
NM_003611.3(OFD1):c.1237G>T (p.Val413Phe) rs2147026202
NM_003611.3(OFD1):c.1258A>G (p.Ile420Val)
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) rs1602883262
NM_003611.3(OFD1):c.1280T>C (p.Leu427Pro)
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
NM_003611.3(OFD1):c.1291G>T (p.Val431Phe)
NM_003611.3(OFD1):c.1300A>G (p.Met434Val)
NM_003611.3(OFD1):c.1306G>C (p.Asp436His)
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
NM_003611.3(OFD1):c.135T>G (p.Ile45Met)
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
NM_003611.3(OFD1):c.1385G>A (p.Arg462Lys) rs2147026919
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)
NM_003611.3(OFD1):c.1397T>C (p.Leu466Pro)
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
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.1412G>C (p.Arg471Pro)
NM_003611.3(OFD1):c.1416A>G (p.Leu472=)
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
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.1444T>C (p.Phe482Leu)
NM_003611.3(OFD1):c.1459C>T (p.Arg487Trp)
NM_003611.3(OFD1):c.145A>T (p.Met49Leu)
NM_003611.3(OFD1):c.1467C>T (p.Ala489=)
NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.148C>T (p.His50Tyr)
NM_003611.3(OFD1):c.1502A>C (p.Glu501Ala) rs2147032914
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
NM_003611.3(OFD1):c.1522C>T (p.His508Tyr)
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
NM_003611.3(OFD1):c.1542+19C>T rs2147033118
NM_003611.3(OFD1):c.1543-10A>G
NM_003611.3(OFD1):c.1543-14C>T rs2147036091
NM_003611.3(OFD1):c.1543-4T>G rs2147036166
NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
NM_003611.3(OFD1):c.1574T>A (p.Ile525Asn)
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.1600A>G (p.Ser534Gly)
NM_003611.3(OFD1):c.1621G>A (p.Asp541Asn)
NM_003611.3(OFD1):c.1622A>G (p.Asp541Gly) rs369907952
NM_003611.3(OFD1):c.1636C>G (p.Leu546Val) rs2147036654
NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs)
NM_003611.3(OFD1):c.1652C>G (p.Thr551Arg)
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.1668A>C (p.Glu556Asp)
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser)
NM_003611.3(OFD1):c.1732GTG[3] (p.Val579_Pro580insVal)
NM_003611.3(OFD1):c.1738C>T (p.Pro580Ser) rs2047873725
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
NM_003611.3(OFD1):c.1743C>T (p.Cys581=)
NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu)
NM_003611.3(OFD1):c.1768T>C (p.Leu590=) rs2147047726
NM_003611.3(OFD1):c.1784A>G (p.Lys595Arg)
NM_003611.3(OFD1):c.178C>A (p.Arg60=)
NM_003611.3(OFD1):c.178C>T (p.Arg60Trp)
NM_003611.3(OFD1):c.1793A>G (p.Asn598Ser) rs2147047869
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser) rs373706613
NM_003611.3(OFD1):c.1859C>A (p.Ser620Tyr)
NM_003611.3(OFD1):c.1859C>T (p.Ser620Phe)
NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)
NM_003611.3(OFD1):c.1892C>G (p.Thr631Ser)
NM_003611.3(OFD1):c.1894A>G (p.Lys632Glu)
NM_003611.3(OFD1):c.1898C>G (p.Ala633Gly) rs1367636282
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
NM_003611.3(OFD1):c.1943C>T (p.Ala648Val)
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
NM_003611.3(OFD1):c.1980dup (p.Ala661fs) rs2047883109
NM_003611.3(OFD1):c.198del (p.Ser67fs)
NM_003611.3(OFD1):c.1993C>T (p.Leu665=) rs1742426055
NM_003611.3(OFD1):c.1994T>C (p.Leu665Pro) rs769788132
NM_003611.3(OFD1):c.2009C>T (p.Pro670Leu)
NM_003611.3(OFD1):c.2011C>T (p.Pro671Ser)
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2061G>A (p.Pro687=) rs757923355
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val) rs2147049159
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr) rs2147049470
NM_003611.3(OFD1):c.2152A>G (p.Thr718Ala)
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.2171G>A (p.Arg724Lys)
NM_003611.3(OFD1):c.2178C>T (p.Arg726=)
NM_003611.3(OFD1):c.2179G>A (p.Gly727Arg)
NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)
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.2210C>A (p.Thr737Lys) rs747090131
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
NM_003611.3(OFD1):c.2233A>C (p.Ser745Arg)
NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
NM_003611.3(OFD1):c.2261-6C>G rs769923969
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.2270G>C (p.Arg757Thr)
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) rs1569102409
NM_003611.3(OFD1):c.2289C>G (p.Pro763=) rs947500861
NM_003611.3(OFD1):c.2290A>C (p.Ser764Arg)
NM_003611.3(OFD1):c.229T>C (p.Leu77=)
NM_003611.3(OFD1):c.2308A>G (p.Met770Val)
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)
NM_003611.3(OFD1):c.2351_2365dup (p.Ser788_Ser789insIleProProValSer)
NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
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.2381A>G (p.Lys794Arg)
NM_003611.3(OFD1):c.2384T>C (p.Val795Ala)
NM_003611.3(OFD1):c.2386G>T (p.Gly796Cys)
NM_003611.3(OFD1):c.2387+12G>A
NM_003611.3(OFD1):c.2387+16T>G
NM_003611.3(OFD1):c.2388-1G>A
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)
NM_003611.3(OFD1):c.2396G>A (p.Arg799Gln)
NM_003611.3(OFD1):c.2414A>G (p.Gln805Arg)
NM_003611.3(OFD1):c.2420A>G (p.Lys807Arg)
NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn)
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del) rs771984968
NM_003611.3(OFD1):c.2465A>G (p.Glu822Gly)
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.2489-15T>G rs2147066461
NM_003611.3(OFD1):c.2489-16A>G
NM_003611.3(OFD1):c.2499C>T (p.Asn833=) rs2147066586
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
NM_003611.3(OFD1):c.2510A>C (p.Gln837Pro)
NM_003611.3(OFD1):c.2514G>A (p.Leu838=) rs1443995525
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
NM_003611.3(OFD1):c.2542G>A (p.Asp848Asn)
NM_003611.3(OFD1):c.2543A>G (p.Asp848Gly)
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
NM_003611.3(OFD1):c.2560G>A (p.Ala854Thr)
NM_003611.3(OFD1):c.2567C>T (p.Ala856Val)
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp) rs2046878445
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
NM_003611.3(OFD1):c.2588A>G (p.Tyr863Cys)
NM_003611.3(OFD1):c.2592G>T (p.Gln864His) rs2147067144
NM_003611.3(OFD1):c.2595C>T (p.His865=)
NM_003611.3(OFD1):c.2596C>A (p.Pro866Thr)
NM_003611.3(OFD1):c.2599+4A>C
NM_003611.3(OFD1):c.2599+5del
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.2600-5_2600del
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.2609A>G (p.Gln870Arg)
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del)
NM_003611.3(OFD1):c.2632GAA[2] (p.Glu880del)
NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)
NM_003611.3(OFD1):c.2647C>A (p.Arg883=) rs149790559
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
NM_003611.3(OFD1):c.2689dup (p.Arg897fs)
NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)
NM_003611.3(OFD1):c.2694G>C (p.Gln898His) rs2048163178
NM_003611.3(OFD1):c.2701C>T (p.Leu901=) rs773811355
NM_003611.3(OFD1):c.2705A>G (p.Gln902Arg)
NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs) rs2147082213
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2747A>G (p.Tyr916Cys)
NM_003611.3(OFD1):c.2757+17G>C
NM_003611.3(OFD1):c.2757+4dup rs2048165387
NM_003611.3(OFD1):c.2757G>A (p.Arg919=) rs2048165288
NM_003611.3(OFD1):c.275C>T (p.Ser92Phe)
NM_003611.3(OFD1):c.276T>A (p.Ser92=) rs201675886
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
NM_003611.3(OFD1):c.2780A>T (p.Lys927Met)
NM_003611.3(OFD1):c.2784T>A (p.Ile928=) rs2147086051
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met) rs2048202271
NM_003611.3(OFD1):c.2849A>C (p.Lys950Thr)
NM_003611.3(OFD1):c.2855C>T (p.Ala952Val)
NM_003611.3(OFD1):c.2867A>G (p.Asn956Ser)
NM_003611.3(OFD1):c.2873T>C (p.Leu958Ser) rs2147086332
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
NM_003611.3(OFD1):c.2884A>G (p.Met962Val)
NM_003611.3(OFD1):c.288A>G (p.Pro96=) rs2146913731
NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)
NM_003611.3(OFD1):c.2895C>T (p.Ile965=) rs2147086446
NM_003611.3(OFD1):c.2904_2906dup (p.Gln969_Asp970insGln)
NM_003611.3(OFD1):c.2908G>A (p.Asp970Asn)
NM_003611.3(OFD1):c.2911C>G (p.Gln971Glu) rs1274499805
NM_003611.3(OFD1):c.2923G>C (p.Asp975His)
NM_003611.3(OFD1):c.2924_2928+62inv
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.2940G>C (p.Lys980Asn)
NM_003611.3(OFD1):c.2959C>T (p.Leu987=) rs148543618
NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)
NM_003611.3(OFD1):c.2970G>T (p.Thr990=)
NM_003611.3(OFD1):c.2991C>G (p.Val997=) rs373088434
NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln)
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.2996+5C>T
NM_003611.3(OFD1):c.2996+7G>C
NM_003611.3(OFD1):c.2997-13T>C
NM_003611.3(OFD1):c.2997-6A>G rs2048246741
NM_003611.3(OFD1):c.3002C>T (p.Thr1001Ile)
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) rs758646234
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=) rs758646234
NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)
NM_003611.3(OFD1):c.308_312del (p.Glu103fs)
NM_003611.3(OFD1):c.312+12C>G
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.313-16C>A
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
NM_003611.3(OFD1):c.363C>A (p.Ser121=) rs2146928280
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln) rs2146928358
NM_003611.3(OFD1):c.381+10C>G
NM_003611.3(OFD1):c.381+20G>A
NM_003611.3(OFD1):c.382-10_382-6del
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) rs766600036
NM_003611.3(OFD1):c.388G>C (p.Gly130Arg) rs2146928806
NM_003611.3(OFD1):c.389G>T (p.Gly130Val)
NM_003611.3(OFD1):c.393T>G (p.Ser131=) rs2146928832
NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
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.422T>C (p.Met141Thr)
NM_003611.3(OFD1):c.450TCA[1] (p.His151del) rs1569117650
NM_003611.3(OFD1):c.453T>G (p.His151Gln)
NM_003611.3(OFD1):c.491G>A (p.Ser164Asn)
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
NM_003611.3(OFD1):c.497C>A (p.Thr166Lys)
NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)
NM_003611.3(OFD1):c.505A>G (p.Arg169Gly)
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
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.550G>A (p.Ala184Thr)
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro) rs1161161896
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) rs2047298129
NM_003611.3(OFD1):c.568C>T (p.Arg190Cys) rs962377226
NM_003611.3(OFD1):c.571A>G (p.Ile191Val)
NM_003611.3(OFD1):c.579C>G (p.Phe193Leu)
NM_003611.3(OFD1):c.602A>G (p.Asn201Ser)
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.616_617del (p.Glu206fs)
NM_003611.3(OFD1):c.620_622dup (p.Ile207_Glu208insVal) rs2146968142
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly) rs776834508
NM_003611.3(OFD1):c.651A>G (p.Gln217=)
NM_003611.3(OFD1):c.655-6T>A
NM_003611.3(OFD1):c.655-9A>C rs758500578
NM_003611.3(OFD1):c.672T>G (p.Asp224Glu)
NM_003611.3(OFD1):c.675C>G (p.Thr225=) rs781665189
NM_003611.3(OFD1):c.675C>T (p.Thr225=)
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.713A>G (p.Tyr238Cys)
NM_003611.3(OFD1):c.723G>A (p.Glu241=) rs2146969853
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
NM_003611.3(OFD1):c.790G>C (p.Glu264Gln)
NM_003611.3(OFD1):c.794dup (p.Ser266fs) rs2047318775
NM_003611.3(OFD1):c.800C>T (p.Thr267Ile)
NM_003611.3(OFD1):c.822C>G (p.His274Gln)
NM_003611.3(OFD1):c.829-16A>G rs886658439
NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)
NM_003611.3(OFD1):c.845T>C (p.Ile282Thr)
NM_003611.3(OFD1):c.877A>T (p.Met293Leu)
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.878T>C (p.Met293Thr)
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
NM_003611.3(OFD1):c.905_906del (p.Glu302fs) rs2146984250
NM_003611.3(OFD1):c.909G>A (p.Leu303=) rs2047424118
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly) rs2047424420
NM_003611.3(OFD1):c.920T>G (p.Val307Gly)
NM_003611.3(OFD1):c.935+1G>C
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.956A>C (p.Glu319Ala)
NM_003611.3(OFD1):c.959A>C (p.Lys320Thr) rs2146992341
NM_003611.3(OFD1):c.962A>G (p.His321Arg)
NM_003611.3(OFD1):c.967del (p.Ser323fs) rs780268478
NM_003611.3(OFD1):c.971T>C (p.Ile324Thr)
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
NM_003611.3(OFD1):c.975T>G (p.Thr325=) rs2047490824
NM_003611.3(OFD1):c.975_976del (p.Glu326fs)

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