ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.894C>T (p.Asn298=) rs112794890 0.00044
NM_194248.3(OTOF):c.1116C>T (p.Tyr372=) rs147595264 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.80-5C>T rs531034566 0.00040
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
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.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.2949C>T (p.Pro983=) rs200246317 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.5813+15G>A rs371649088 0.00010
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_194248.3(OTOF):c.1569C>T (p.Asp523=) rs111440869 0.00007
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=) rs375349663 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_194248.3(OTOF):c.1221C>T (p.Pro407=) rs727504716 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.1800G>A (p.Ser600=) rs397517936 0.00004
NM_194248.3(OTOF):c.2520C>T (p.Asp840=) rs147061068 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=) rs148819838 0.00004
NM_194248.3(OTOF):c.4500+11C>T rs727503353 0.00004
NM_194248.3(OTOF):c.100G>A (p.Val34Ile) rs397517933 0.00003
NM_194248.3(OTOF):c.1071C>A (p.Ala357=) rs767723798 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.80-15C>T rs1487527833 0.00003
NM_194248.3(OTOF):c.1335C>T (p.Ile445=) rs749521853 0.00002
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.*204G>A rs775320200 0.00001
NM_194248.3(OTOF):c.227+12A>G rs397517938 0.00001
NM_194248.3(OTOF):c.2406+9G>A rs397517939 0.00001
NM_194248.3(OTOF):c.2524-14C>T rs727503357 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser) rs397517940 0.00001
NM_194248.3(OTOF):c.3156C>T (p.Phe1052=) rs397517942 0.00001
NM_194248.3(OTOF):c.3276C>T (p.Phe1092=) rs776668692 0.00001
NM_194248.3(OTOF):c.3731C>T (p.Thr1244Met) rs368293095 0.00001
NM_194248.3(OTOF):c.4023+7C>T rs370239223 0.00001
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=) rs748951588 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.5882C>T (p.Thr1961Met) rs779578562 0.00001
NM_194248.3(OTOF):c.1205+3G>A rs727503360
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=) rs572162678
NM_194248.3(OTOF):c.1413G>A (p.Lys471=) rs769723512
NM_194248.3(OTOF):c.1446C>T (p.Val482=) rs749138873
NM_194248.3(OTOF):c.1803+11A>G rs372583354
NM_194248.3(OTOF):c.2037C>T (p.Ala679=) rs397517937
NM_194248.3(OTOF):c.2074C>A (p.Arg692=) rs765368301
NM_194248.3(OTOF):c.2215-16C>T rs752279476
NM_194248.3(OTOF):c.2316-4C>A rs727503358
NM_194248.3(OTOF):c.3288+8T>C rs876657549
NM_194248.3(OTOF):c.3303G>A (p.Gly1101=) rs727505304
NM_194248.3(OTOF):c.3363C>T (p.Pro1121=) rs745957247
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.3628C>A (p.Arg1210=) rs397517945
NM_194248.3(OTOF):c.3870T>C (p.Ser1290=) rs777658929
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=) rs397517947
NM_194248.3(OTOF):c.4995G>C (p.Leu1665=) rs111033371
NM_194248.3(OTOF):c.5817G>T (p.Arg1939=) rs397517950
NM_194248.3(OTOF):c.5868C>T (p.Tyr1956=) rs727504937
NM_194248.3(OTOF):c.5922G>A (p.Leu1974=) rs111033372
NM_194248.3(OTOF):c.780G>A (p.Val260=) rs151306930
NM_194248.3(OTOF):c.97C>A (p.Arg33=) rs150867836

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