ClinVar Miner

List of variants in gene OTOG reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys) rs533820347 0.00056
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 0.00051
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) rs868729716 0.00030
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His) rs555068328 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001292063.2(OTOG):c.2867+6T>G rs906307749 0.00012
NM_001292063.2(OTOG):c.7810C>T (p.Arg2604Cys) rs876657944 0.00010
NM_001292063.2(OTOG):c.94+76C>T rs568988885 0.00010
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp) rs756364973 0.00009
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) rs752392477 0.00007
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu) rs867891665 0.00007
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys) rs755375116 0.00006
NM_001292063.2(OTOG):c.1793G>A (p.Arg598His) rs1032491736 0.00006
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) rs941077657 0.00006
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val) rs766929865 0.00004
NM_001292063.2(OTOG):c.6350C>T (p.Ala2117Val) rs535700451 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001292063.2(OTOG):c.2276C>T (p.Ala759Val) rs876657937 0.00003
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys) rs764931529 0.00003
NM_001292063.2(OTOG):c.6037C>T (p.Arg2013Cys) rs757086717 0.00003
NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu) rs939158613 0.00003
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His) rs560987450 0.00002
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) rs1011979116 0.00002
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile) rs767774116 0.00002
NM_001292063.2(OTOG):c.3526-12G>C rs749205983 0.00002
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) rs1260548574 0.00001
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu) rs750521452 0.00001
NM_001292063.2(OTOG):c.2911G>A (p.Ala971Thr) rs897016393 0.00001
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys) rs566689671 0.00001
NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln) rs1260721968 0.00001
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn) rs1396310498 0.00001
NM_001292063.2(OTOG):c.4991A>T (p.His1664Leu) rs1427538566 0.00001
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) rs1311003002 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg) rs771765463 0.00001
NM_001292063.2(OTOG):c.8038G>A (p.Glu2680Lys) rs758935605 0.00001
NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys) rs948010343 0.00001
NM_001277269.2(OTOG):c.4198_4215del (p.Lys1400_Ala1405del) rs876657940
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237
NM_001292063.2(OTOG):c.14C>T (p.Ala5Val) rs1018902503
NM_001292063.2(OTOG):c.1955+4C>A rs757779986
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro) rs876657938
NM_001292063.2(OTOG):c.4060C>A (p.Pro1354Thr) rs1554974319
NM_001292063.2(OTOG):c.4156G>A (p.Asp1386Asn) rs876657939
NM_001292063.2(OTOG):c.5408C>A (p.Pro1803His) rs1853511496
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6181G>T (p.Val2061Leu) rs748497956
NM_001292063.2(OTOG):c.6293-3C>G rs201371081
NM_001292063.2(OTOG):c.7147G>A (p.Gly2383Arg) rs866627770
NM_001292063.2(OTOG):c.7261A>G (p.Lys2421Glu) rs876657941
NM_001292063.2(OTOG):c.7364C>A (p.Thr2455Asn) rs1554979068
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu) rs767555421

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