ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) rs140561107 0.00012
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn) rs758883184 0.00010
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.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) rs761915805 0.00004
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys) rs770634301 0.00004
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911 0.00003
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782 0.00003
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 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.195A>C (p.Glu65Asp) rs1060500184 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.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977 0.00002
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala) rs1382696572 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.634C>T (p.Arg212Trp) rs776834508 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.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.1427C>T (p.Ala476Val) rs1189655158 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 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.1699G>A (p.Asp567Asn) rs760663674 0.00001
NM_003611.3(OFD1):c.1960C>T (p.Arg654Trp) rs779709673 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 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.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.2598A>C (p.Pro866=) rs2048026816 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.676G>A (p.Glu226Lys) rs1273056528 0.00001
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr) rs1354561362 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
NC_000023.10:g.(?_13753185)_(13787232_?)dup
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.1014_1015insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATATAAAGAGTTTT (p.Glu339delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly) rs758903488
NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)
NM_003611.3(OFD1):c.1055A>C (p.Lys352Thr)
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg) rs779494159
NM_003611.3(OFD1):c.1056-3C>G
NM_003611.3(OFD1):c.1061A>T (p.Gln354Leu)
NM_003611.3(OFD1):c.1063C>T (p.Leu355Phe)
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.1100G>C (p.Arg367Pro)
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.1196C>G (p.Ser399Cys)
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.1276A>C (p.Met426Leu)
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) rs1602883262
NM_003611.3(OFD1):c.1280T>C (p.Leu427Pro)
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.135T>G (p.Ile45Met)
NM_003611.3(OFD1):c.136C>G (p.His46Asp)
NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)
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.1412G>C (p.Arg471Pro)
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
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.1475C>A (p.Ala492Asp)
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.1497G>T (p.Glu499Asp)
NM_003611.3(OFD1):c.1501G>A (p.Glu501Lys)
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.1528C>G (p.Gln510Glu)
NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)
NM_003611.3(OFD1):c.1543-10A>G
NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)
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.1621G>C (p.Asp541His)
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.1652C>G (p.Thr551Arg)
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser)
NM_003611.3(OFD1):c.1715G>C (p.Gly572Ala)
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>G (p.Cys581Trp)
NM_003611.3(OFD1):c.1745A>G (p.Asn582Ser)
NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu)
NM_003611.3(OFD1):c.176C>T (p.Pro59Leu)
NM_003611.3(OFD1):c.1777C>G (p.Pro593Ala)
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.1795G>A (p.Val599Ile)
NM_003611.3(OFD1):c.179G>A (p.Arg60Gln)
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)
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>A (p.Glu643Lys)
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
NM_003611.3(OFD1):c.1943C>T (p.Ala648Val)
NM_003611.3(OFD1):c.1948A>G (p.Arg650Gly)
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.2046T>G (p.Ile682Met)
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val) rs2147049159
NM_003611.3(OFD1):c.2075T>C (p.Phe692Ser)
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)
NM_003611.3(OFD1):c.211A>G (p.Ile71Val)
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr) rs2147049470
NM_003611.3(OFD1):c.2137G>A (p.Val713Ile)
NM_003611.3(OFD1):c.2152A>G (p.Thr718Ala)
NM_003611.3(OFD1):c.2171G>A (p.Arg724Lys)
NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)
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.2270G>C (p.Arg757Thr)
NM_003611.3(OFD1):c.2276A>T (p.His759Leu)
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) rs1569102409
NM_003611.3(OFD1):c.2290A>C (p.Ser764Arg)
NM_003611.3(OFD1):c.2308A>G (p.Met770Val)
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.2359G>A (p.Val787Ile)
NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
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.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.2489-15T>G rs2147066461
NM_003611.3(OFD1):c.2489-16A>G
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
NM_003611.3(OFD1):c.2510A>C (p.Gln837Pro)
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.2588A>G (p.Tyr863Cys)
NM_003611.3(OFD1):c.2592G>T (p.Gln864His) rs2147067144
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.2600G>T (p.Ser867Ile)
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
NM_003611.3(OFD1):c.2614C>G (p.Gln872Glu)
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>T (p.Arg883Trp)
NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)
NM_003611.3(OFD1):c.2665G>A (p.Glu889Lys)
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)
NM_003611.3(OFD1):c.2694G>C (p.Gln898His) rs2048163178
NM_003611.3(OFD1):c.2705A>G (p.Gln902Arg)
NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
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.2780A>T (p.Lys927Met)
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.2884A>G (p.Met962Val)
NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)
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.2918C>G (p.Ser973Trp)
NM_003611.3(OFD1):c.2923G>C (p.Asp975His)
NM_003611.3(OFD1):c.2924_2928+62inv
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
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.2992G>C (p.Glu998Gln)
NM_003611.3(OFD1):c.2996+4C>T
NM_003611.3(OFD1):c.2996+5C>T
NM_003611.3(OFD1):c.2997-6A>G rs2048246741
NM_003611.3(OFD1):c.3002C>T (p.Thr1001Ile)
NM_003611.3(OFD1):c.3005G>C (p.Gly1002Ala)
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.3028G>A (p.Asp1010Asn)
NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)
NM_003611.3(OFD1):c.313-19T>G
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln) rs2146928358
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.397A>G (p.Lys133Glu)
NM_003611.3(OFD1):c.413-10T>C
NM_003611.3(OFD1):c.422T>C (p.Met141Thr)
NM_003611.3(OFD1):c.427T>C (p.Phe143Leu)
NM_003611.3(OFD1):c.431T>C (p.Leu144Ser)
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.496A>G (p.Thr166Ala)
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.550G>A (p.Ala184Thr)
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro) rs1161161896
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.620_622dup (p.Ile207_Glu208insVal) rs2146968142
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly) rs776834508
NM_003611.3(OFD1):c.638C>G (p.Ala213Gly)
NM_003611.3(OFD1):c.654+5G>A
NM_003611.3(OFD1):c.655-6T>A
NM_003611.3(OFD1):c.672T>G (p.Asp224Glu)
NM_003611.3(OFD1):c.675C>T (p.Thr225=)
NM_003611.3(OFD1):c.713A>G (p.Tyr238Cys)
NM_003611.3(OFD1):c.755C>T (p.Ala252Val)
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
NM_003611.3(OFD1):c.787C>T (p.Arg263Trp)
NM_003611.3(OFD1):c.790G>C (p.Glu264Gln)
NM_003611.3(OFD1):c.791A>T (p.Glu264Val)
NM_003611.3(OFD1):c.800C>T (p.Thr267Ile)
NM_003611.3(OFD1):c.802C>T (p.Leu268Phe)
NM_003611.3(OFD1):c.822C>G (p.His274Gln)
NM_003611.3(OFD1):c.828+5T>C
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.878T>C (p.Met293Thr)
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly) rs2047424420
NM_003611.3(OFD1):c.920T>C (p.Val307Ala)
NM_003611.3(OFD1):c.920T>G (p.Val307Gly)
NM_003611.3(OFD1):c.941A>G (p.Gln314Arg)
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.964A>G (p.Lys322Glu)
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.975_976del (p.Glu326fs)

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