ClinVar Miner

List of variants in gene OTOF reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr) rs760176622 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg) rs879255246
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs) rs2148060432
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter) rs1558489384
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs) rs1553353527
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.1962dup (p.Pro655fs) rs751564248
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2406+4A>G rs2148051765
NM_194248.3(OTOF):c.2407-2del
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.2866+1G>A rs2148047884
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4885del (p.His1629fs) rs2148026336
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter) rs753580324
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) rs953404925
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.897+5G>A rs1553356452
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg) rs121908598
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg) rs1157997148

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