ClinVar Miner

List of variants in gene OTOF reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met) rs138249243 0.00089
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00046
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00021
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169 0.00014
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.5711C>T (p.Thr1904Met) rs551267412 0.00012
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00010
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4408C>T (p.Arg1470Trp) rs141084986 0.00009
NM_194248.3(OTOF):c.4459A>G (p.Asn1487Asp) rs376771750 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_194248.3(OTOF):c.788C>T (p.Ala263Val) rs1013661076 0.00009
NM_194248.3(OTOF):c.4087G>A (p.Glu1363Lys) rs769620123 0.00008
NM_194248.3(OTOF):c.5419G>A (p.Val1807Ile) rs141443396 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00008
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln) rs1330253297 0.00005
NM_194248.3(OTOF):c.4484G>A (p.Arg1495Gln) rs201067193 0.00005
NM_194248.3(OTOF):c.1186G>A (p.Asp396Asn) rs760394336 0.00004
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.3755G>A (p.Arg1252His) rs201532334 0.00004
NM_194248.3(OTOF):c.4307C>T (p.Thr1436Ile) rs41286011 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.637G>A (p.Gly213Arg) rs989209365 0.00004
NM_194248.3(OTOF):c.641A>G (p.Asp214Gly) rs773263831 0.00004
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00003
NM_194248.3(OTOF):c.1681G>A (p.Glu561Lys) rs751835146 0.00003
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2039G>A (p.Gly680Glu) rs751952710 0.00003
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142 0.00003
NM_194248.3(OTOF):c.3571G>T (p.Asp1191Tyr) rs772807679 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.5712+5G>A rs750175033 0.00003
NM_194248.3(OTOF):c.631C>T (p.Arg211Trp) rs138720253 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln) rs748844952 0.00002
NM_194248.3(OTOF):c.2764C>T (p.Arg922Cys) rs754280163 0.00002
NM_194248.3(OTOF):c.2882A>G (p.Gln961Arg) rs1358025747 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_194248.3(OTOF):c.3379C>T (p.Arg1127Trp) rs918324092 0.00002
NM_194248.3(OTOF):c.3938C>T (p.Ala1313Val) rs143650036 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4852C>T (p.Arg1618Cys) rs150131683 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.1032G>A (p.Val344=) rs149018719 0.00001
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.1891A>T (p.Ile631Phe) rs765083847 0.00001
NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys) rs1131691297 0.00001
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524 0.00001
NM_194248.3(OTOF):c.2438G>A (p.Arg813Gln) rs767282723 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2689C>T (p.Arg897Trp) rs768666917 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_194248.3(OTOF):c.3362C>T (p.Pro1121Leu) rs779205233 0.00001
NM_194248.3(OTOF):c.3408+5G>A rs760279912 0.00001
NM_194248.3(OTOF):c.3571-6C>A rs397517944 0.00001
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3680G>A (p.Arg1227Gln) rs759559737 0.00001
NM_194248.3(OTOF):c.3864+3A>G rs753010779 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4462G>A (p.Asp1488Asn) rs183627999 0.00001
NM_194248.3(OTOF):c.4499G>A (p.Arg1500Gln) rs766918362 0.00001
NM_194248.3(OTOF):c.4549A>C (p.Ile1517Leu) rs142333327 0.00001
NM_194248.3(OTOF):c.4885C>A (p.His1629Asn) rs774994239 0.00001
NM_194248.3(OTOF):c.5467A>G (p.Lys1823Glu) rs369848891 0.00001
NM_194248.3(OTOF):c.5518G>A (p.Ala1840Thr) rs771088478 0.00001
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_194248.3(OTOF):c.1016T>C (p.Met339Thr)
NM_194248.3(OTOF):c.1150G>A (p.Asp384Asn)
NM_194248.3(OTOF):c.1253G>A (p.Arg418Gln)
NM_194248.3(OTOF):c.1328C>T (p.Ala443Val)
NM_194248.3(OTOF):c.1366G>A (p.Val456Met)
NM_194248.3(OTOF):c.1418G>C (p.Ser473Thr)
NM_194248.3(OTOF):c.1505C>T (p.Ser502Leu)
NM_194248.3(OTOF):c.1694T>C (p.Phe565Ser)
NM_194248.3(OTOF):c.1714G>T (p.Gly572Cys) rs2148056953
NM_194248.3(OTOF):c.1747C>G (p.Pro583Ala)
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_194248.3(OTOF):c.1867G>A (p.Asp623Asn) rs763063323
NM_194248.3(OTOF):c.1869C>T (p.Asp623=)
NM_194248.3(OTOF):c.1927G>A (p.Glu643Lys)
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.1963C>T (p.Pro655Ser)
NM_194248.3(OTOF):c.2015G>A (p.Ser672Asn)
NM_194248.3(OTOF):c.2039G>C (p.Gly680Ala)
NM_194248.3(OTOF):c.2082G>T (p.Gln694His)
NM_194248.3(OTOF):c.211A>G (p.Lys71Glu)
NM_194248.3(OTOF):c.2215-125A>G rs750259905
NM_194248.3(OTOF):c.229C>T (p.Leu77Phe)
NM_194248.3(OTOF):c.2332G>A (p.Ala778Thr)
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2383C>T (p.Leu795Phe) rs2148051830
NM_194248.3(OTOF):c.2392T>C (p.Cys798Arg)
NM_194248.3(OTOF):c.2407-10_2407-9delinsAA rs2148051425
NM_194248.3(OTOF):c.2407-16_2407-5del
NM_194248.3(OTOF):c.2407-18_2407-17delinsGG
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2437C>T (p.Arg813Trp)
NM_194248.3(OTOF):c.2457C>T (p.His819=)
NM_194248.3(OTOF):c.2470A>G (p.Lys824Glu) rs2148051221
NM_194248.3(OTOF):c.2525C>T (p.Pro842Leu) rs2148050759
NM_194248.3(OTOF):c.2551A>T (p.Ile851Phe)
NM_194248.3(OTOF):c.2554T>A (p.Trp852Arg) rs2148050707
NM_194248.3(OTOF):c.2576G>A (p.Arg859His)
NM_194248.3(OTOF):c.2620A>T (p.Ile874Phe)
NM_194248.3(OTOF):c.2632G>A (p.Glu878Lys) rs1172733523
NM_194248.3(OTOF):c.2639G>A (p.Gly880Asp)
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.2857G>T (p.Val953Phe)
NM_194248.3(OTOF):c.2923G>A (p.Ala975Thr)
NM_194248.3(OTOF):c.2924C>T (p.Ala975Val) rs909276883
NM_194248.3(OTOF):c.2935G>A (p.Gly979Arg)
NM_194248.3(OTOF):c.3040G>A (p.Asp1014Asn)
NM_194248.3(OTOF):c.3080A>G (p.Asp1027Gly)
NM_194248.3(OTOF):c.3202C>T (p.Arg1068Cys)
NM_194248.3(OTOF):c.3247G>A (p.Ala1083Thr)
NM_194248.3(OTOF):c.3288+4G>A
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_194248.3(OTOF):c.333C>A (p.Ser111Arg) rs2148098670
NM_194248.3(OTOF):c.3347G>A (p.Arg1116Gln)
NM_194248.3(OTOF):c.3360G>A (p.Met1120Ile) rs2148043458
NM_194248.3(OTOF):c.3370A>G (p.Met1124Val)
NM_194248.3(OTOF):c.3469C>T (p.Arg1157Trp)
NM_194248.3(OTOF):c.3568G>C (p.Val1190Leu)
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
NM_194248.3(OTOF):c.3727A>G (p.Thr1243Ala)
NM_194248.3(OTOF):c.3733+6G>C
NM_194248.3(OTOF):c.376G>T (p.Gly126Cys)
NM_194248.3(OTOF):c.3774CTC[2] (p.Ser1261del) rs755171049
NM_194248.3(OTOF):c.3844A>G (p.Thr1282Ala) rs2148039850
NM_194248.3(OTOF):c.3848T>C (p.Met1283Thr)
NM_194248.3(OTOF):c.3862G>T (p.Ala1288Ser)
NM_194248.3(OTOF):c.3865-2A>G rs1131691278
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.3913AAG[8] (p.Lys1309_Lys1310dup) rs368148603
NM_194248.3(OTOF):c.391G>A (p.Gly131Arg)
NM_194248.3(OTOF):c.3951_3965dup (p.Pro1321_Asp1322insGluGluGluGluPro)
NM_194248.3(OTOF):c.4193C>T (p.Pro1398Leu)
NM_194248.3(OTOF):c.4324G>A (p.Gly1442Ser) rs367581711
NM_194248.3(OTOF):c.4328C>T (p.Ser1443Phe)
NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) rs1131691695
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
NM_194248.3(OTOF):c.4513C>T (p.His1505Tyr)
NM_194248.3(OTOF):c.4667T>A (p.Met1556Lys)
NM_194248.3(OTOF):c.4771A>G (p.Thr1591Ala)
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4894C>A (p.Pro1632Thr) rs749332831
NM_194248.3(OTOF):c.4918A>G (p.Asn1640Asp)
NM_194248.3(OTOF):c.5003T>C (p.Leu1668Pro)
NM_194248.3(OTOF):c.5193-3del
NM_194248.3(OTOF):c.5200C>G (p.Leu1734Val) rs2148021116
NM_194248.3(OTOF):c.5233G>A (p.Val1745Ile)
NM_194248.3(OTOF):c.5254T>C (p.Phe1752Leu) rs1085307832
NM_194248.3(OTOF):c.5323G>C (p.Asp1775His)
NM_194248.3(OTOF):c.5343C>A (p.His1781Gln) rs375826721
NM_194248.3(OTOF):c.5369A>G (p.Asn1790Ser) rs965017813
NM_194248.3(OTOF):c.5435A>G (p.Glu1812Gly)
NM_194248.3(OTOF):c.5461G>A (p.Glu1821Lys)
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5621A>T (p.Asp1874Val)
NM_194248.3(OTOF):c.5654G>A (p.Arg1885His)
NM_194248.3(OTOF):c.5668T>C (p.Trp1890Arg) rs1572399566
NM_194248.3(OTOF):c.5674C>A (p.Leu1892Ile)
NM_194248.3(OTOF):c.5776C>A (p.Leu1926Met)
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.730A>G (p.Met244Val) rs1443086050
NM_194248.3(OTOF):c.791G>A (p.Arg264Gln) rs370475628
NM_194248.3(OTOF):c.791G>C (p.Arg264Pro) rs370475628
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.904G>A (p.Val302Ile)
NM_194248.3(OTOF):c.964A>T (p.Ile322Phe)
NM_194323.3(OTOF):c.3563A>G (p.Lys1188Arg)
NM_194323.3(OTOF):c.3631A>T (p.Met1211Leu) rs1482726409

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