ClinVar Miner

List of variants in gene OTOF reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NC_000002.11:g.(?_26706310)_(26707521_?)del
NM_194248.3(OTOF):c.1037C>A (p.Ser346Ter)
NM_194248.3(OTOF):c.1039C>T (p.Gln347Ter)
NM_194248.3(OTOF):c.1045+1G>C
NM_194248.3(OTOF):c.1045+1G>T
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter) rs1558492758
NM_194248.3(OTOF):c.1067G>A (p.Trp356Ter)
NM_194248.3(OTOF):c.1068G>A (p.Trp356Ter)
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1272C>G (p.Tyr424Ter)
NM_194248.3(OTOF):c.1365C>A (p.Tyr455Ter)
NM_194248.3(OTOF):c.1406_1410del (p.Val469fs)
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1433G>A (p.Trp478Ter)
NM_194248.3(OTOF):c.1468_1469del (p.Pro490fs)
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1469del (p.Pro490fs) rs779119416
NM_194248.3(OTOF):c.1498C>T (p.Arg500Ter)
NM_194248.3(OTOF):c.153_159dup (p.Ser54fs) rs759366568
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1632_1641dup (p.Leu548Ter)
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.1966dup (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2171del (p.Arg724fs)
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.226A>T (p.Lys76Ter)
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2521G>T (p.Glu841Ter)
NM_194248.3(OTOF):c.2556del (p.Ile851_Trp852insTer)
NM_194248.3(OTOF):c.2711G>A (p.Trp904Ter)
NM_194248.3(OTOF):c.2843del (p.Pro948fs)
NM_194248.3(OTOF):c.2941_2947del (p.Ser981fs)
NM_194248.3(OTOF):c.2956del (p.Arg986fs)
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.3070G>T (p.Glu1024Ter)
NM_194248.3(OTOF):c.3159del (p.Lys1054fs)
NM_194248.3(OTOF):c.3178del (p.Ala1060fs) rs727504639
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
NM_194248.3(OTOF):c.3239del (p.Arg1080fs)
NM_194248.3(OTOF):c.3258_3268dup (p.Ala1090fs)
NM_194248.3(OTOF):c.3286C>T (p.Gln1096Ter)
NM_194248.3(OTOF):c.3289-1G>C
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3321del (p.Ile1108fs)
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
NM_194248.3(OTOF):c.3346C>T (p.Arg1116Ter)
NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)
NM_194248.3(OTOF):c.3409-1G>C
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3480_3486del (p.Ile1160fs)
NM_194248.3(OTOF):c.3481G>T (p.Glu1161Ter)
NM_194248.3(OTOF):c.3549_3550insAA (p.Leu1184fs)
NM_194248.3(OTOF):c.354T>A (p.Tyr118Ter)
NM_194248.3(OTOF):c.3679C>T (p.Arg1227Ter)
NM_194248.3(OTOF):c.383G>A (p.Trp128Ter)
NM_194248.3(OTOF):c.3982dup (p.Trp1328fs)
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4036C>T (p.Gln1346Ter)
NM_194248.3(OTOF):c.418C>T (p.Gln140Ter)
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4289_4292dup (p.Arg1433fs)
NM_194248.3(OTOF):c.4301dup (p.Lys1435fs)
NM_194248.3(OTOF):c.4385_4386del (p.Val1462fs)
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4495del (p.Val1499fs)
NM_194248.3(OTOF):c.4596del (p.Asn1531_Tyr1532insTer)
NM_194248.3(OTOF):c.46del (p.Arg16fs)
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
NM_194248.3(OTOF):c.4776C>A (p.Cys1592Ter)
NM_194248.3(OTOF):c.4799+1G>C
NM_194248.3(OTOF):c.4799+1G>T
NM_194248.3(OTOF):c.4799+2T>C
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4877_4880del (p.Asp1626fs)
NM_194248.3(OTOF):c.490G>T (p.Gly164Ter)
NM_194248.3(OTOF):c.493G>T (p.Glu165Ter)
NM_194248.3(OTOF):c.4959del (p.Asn1653fs)
NM_194248.3(OTOF):c.4961-1G>A rs2148024902
NM_194248.3(OTOF):c.5013G>A (p.Trp1671Ter)
NM_194248.3(OTOF):c.5193-1G>C
NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter) rs138681366
NM_194248.3(OTOF):c.5206del (p.Val1736fs)
NM_194248.3(OTOF):c.5308C>T (p.Gln1770Ter)
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5520del (p.Asp1841fs)
NM_194248.3(OTOF):c.5531del (p.Leu1844fs) rs1164047840
NM_194248.3(OTOF):c.5661del (p.Gly1888fs)
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5814-1_5833del
NM_194248.3(OTOF):c.5868C>A (p.Tyr1956Ter)
NM_194248.3(OTOF):c.5892G>A (p.Trp1964Ter)
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.711-1G>T
NM_194248.3(OTOF):c.727A>T (p.Lys243Ter)
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.799dup (p.Val267fs)
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.993_1003del (p.Thr332fs)
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359

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