List of variants in gene OTOF reported as likely pathogenic for perceptual disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)	rs111033330	0.00013
NM_194248.3(OTOF):c.4227+1G>T	rs397515601	0.00009
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)	rs202086317	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_194248.3(OTOF):c.76C>T (p.Arg26Ter)	rs145208539	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.2719C>T (p.Gln907Ter)	rs1249447410	0.00001
NM_194248.3(OTOF):c.4960G>A (p.Gly1654Ser)	rs1005694756	0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)	rs397515605	0.00001
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)	rs1172714485	0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)	rs142111099	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
NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
NM_194248.3(OTOF):c.1172del (p.Lys391fs)	rs483353050
NM_194248.3(OTOF):c.1248G>A (p.Trp416Ter)
NM_194248.3(OTOF):c.1408C>T (p.Gln470Ter)
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1493A>C (p.Gln498Pro)
NM_194248.3(OTOF):c.1535C>T (p.Thr512Ile)
NM_194248.3(OTOF):c.1539_1554del (p.His513fs)
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)	rs1558490542
NM_194248.3(OTOF):c.1579+1G>A
NM_194248.3(OTOF):c.1774C>T (p.Gln592Ter)
NM_194248.3(OTOF):c.1804-2A>G	rs2148056311
NM_194248.3(OTOF):c.1836_1837del (p.Phe613fs)
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)	rs1558488902
NM_194248.3(OTOF):c.1912+5G>C	rs2148056188
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)	rs200864338
NM_194248.3(OTOF):c.1951C>T (p.Gln651Ter)
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	rs80356590
NM_194248.3(OTOF):c.2214+5G>C
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2406+2dup	rs2148051770
NM_194248.3(OTOF):c.2499_2500insT (p.Lys834Ter)
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup)	rs2148050495
NM_194248.3(OTOF):c.2656del (p.Val886fs)
NM_194248.3(OTOF):c.2677-2A>G	rs1057518840
NM_194248.3(OTOF):c.2688del (p.Lys896fs)
NM_194248.3(OTOF):c.2781C>A (p.Cys927Ter)
NM_194248.3(OTOF):c.2826_2839del (p.Gly943fs)
NM_194248.3(OTOF):c.2901C>G (p.Tyr967Ter)
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del)	rs1423777622
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs)	rs773708510
NM_194248.3(OTOF):c.3263del (p.Leu1088fs)
NM_194248.3(OTOF):c.3289-1G>C
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)	rs1558480402
NM_194248.3(OTOF):c.3381dup (p.Pro1128fs)
NM_194248.3(OTOF):c.3409-2A>C	rs201613240
NM_194248.3(OTOF):c.3409-2A>G
NM_194248.3(OTOF):c.3409-2A>T
NM_194248.3(OTOF):c.3454C>T (p.Gln1152Ter)
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.3704_3719dup (p.Ser1240fs)
NM_194248.3(OTOF):c.4091-1G>A
NM_194248.3(OTOF):c.4228-1G>T
NM_194248.3(OTOF):c.4342_4343insT (p.Arg1448fs)
NM_194248.3(OTOF):c.4362+1G>T
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)	rs1558472243
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.4541A>G (p.Asp1514Gly)	rs2148028248
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4791del (p.Tyr1598fs)
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)	rs143939430
NM_194248.3(OTOF):c.4847T>C (p.Leu1616Pro)
NM_194248.3(OTOF):c.4903A>T (p.Arg1635Ter)
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_194248.3(OTOF):c.5193-1G>A	rs111033373
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)	rs2148021052
NM_194248.3(OTOF):c.5291+1G>T
NM_194248.3(OTOF):c.5330A>G (p.Asp1777Gly)
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp)	rs2148020419
NM_194248.3(OTOF):c.5380del (p.Leu1794fs)
NM_194248.3(OTOF):c.5390dup (p.Asp1798fs)
NM_194248.3(OTOF):c.5534-2A>G	rs1664440809
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)	rs2148018483
NM_194248.3(OTOF):c.5666G>C (p.Trp1889Ser)
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194248.3(OTOF):c.5713-1G>A
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)	rs1558464965
NM_194248.3(OTOF):c.5780C>A (p.Ala1927Asp)
NM_194248.3(OTOF):c.5782C>T (p.Arg1928Cys)
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)	rs397515609
NM_194248.3(OTOF):c.5813+1G>A
NM_194248.3(OTOF):c.669del (p.Ala224fs)	rs2148078546
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_194248.3(OTOF):c.897+1G>T	rs483353049
NM_194323.3(OTOF):c.3593TCA[2] (p.Ile1200del)
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)	rs727505359

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