ClinVar Miner

List of variants in gene OTOF reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
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.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn) rs147865867 0.00009
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val) rs113433719 0.00006
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn) rs756143591 0.00006
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
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.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln) rs397517943 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile) rs727503354 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535 0.00002
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr) rs764162969 0.00001
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr) rs727505141 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.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser) rs764461086 0.00001
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val) rs201123430 0.00001
NM_194248.3(OTOF):c.4227+5G>C rs571671530 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.4681G>A (p.Val1561Met) rs763032357 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu) rs778056468 0.00001
NM_194248.3(OTOF):c.1024G>C (p.Gly342Arg) rs1572444852
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp) rs745520384
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp) rs1553352609
NM_194248.3(OTOF):c.2896A>G (p.Met966Val) rs921891243
NM_194248.3(OTOF):c.327+3G>C rs876657935
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val) rs755175941
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile) rs727504839
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala) rs397517946
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.4440G>A (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg) rs397517949
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn) rs137986959
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.986G>A (p.Arg329His) rs764248648
NM_194323.3(OTOF):c.3631A>G (p.Met1211Val) rs1482726409

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