ClinVar Miner

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

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Gene type:
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Total variants: 89
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HGVS dbSNP
NC_000002.12:g.26463547T>G
NC_000002.12:g.26464038C>T
NC_000002.12:g.26466025C>T
NC_000002.12:g.26466760G>A
NC_000002.12:g.26466774C>T
NC_000002.12:g.26474575A>G
NC_000002.12:g.26477242C>T
NC_000002.12:g.26489232C>G
NC_000002.12:g.26489679G>A
NC_000002.12:g.26503832C>T
NM_194248.2(OTOF):c.3928_3930dupAAG rs368148603
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.*136A>G rs1482726409
NM_194248.3(OTOF):c.*179A>G rs750669994
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) rs551919295
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359
NM_194248.3(OTOF):c.2287G>T (p.Val763Phe) rs138545671
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096
NM_194248.3(OTOF):c.2523+5G>A rs201745796
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp) rs1553352609
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn) rs147865867
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692
NM_194248.3(OTOF):c.2896A>G (p.Met966Val) rs921891243
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val) rs113433719
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189
NM_194248.3(OTOF):c.327+3G>C rs876657935
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr) rs764162969
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr) rs727505141
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln) rs397517943
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val) rs755175941
NM_194248.3(OTOF):c.3571-6C>A rs397517944
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558
NM_194248.3(OTOF):c.3865-12G>A rs374902867
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile) rs727504839
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn) rs756143591
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala) rs397517946
NM_194248.3(OTOF):c.3913_3915AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194248.3(OTOF):c.4023+1G>A rs186810296
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser) rs764461086
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val) rs201123430
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352
NM_194248.3(OTOF):c.4227+5G>C rs571671530
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563
NM_194248.3(OTOF):c.4363-6G>A rs199567872
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg) rs397517949
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn) rs137986959
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu) rs778056468
NM_194248.3(OTOF):c.898-6C>A rs199687628

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