ClinVar Miner

List of variants in gene OTOG reported as likely pathogenic

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser) rs763848795 0.00004
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001292063.2(OTOG):c.4275-1G>C rs1478750141 0.00001
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NC_000011.9:g.(?_17625058)_(17634271_?)del
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1005C>G (p.Tyr335Ter) rs577674003
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe) rs1051388148
NM_001292063.2(OTOG):c.1452-1G>A
NM_001292063.2(OTOG):c.2080+2T>G
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2561+1del rs1852533572
NM_001292063.2(OTOG):c.3409-2A>G rs934194113
NM_001292063.2(OTOG):c.3525+1G>A
NM_001292063.2(OTOG):c.4145T>C (p.Phe1382Ser)
NM_001292063.2(OTOG):c.4279G>T (p.Glu1427Ter) rs769161471
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.4985del (p.Gly1662fs) rs1565116526
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter) rs2134090994
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) rs1853512469
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6292+2_6292+3del rs1203130034
NM_001292063.2(OTOG):c.6542T>A (p.Leu2181Ter)
NM_001292063.2(OTOG):c.659+2T>C rs2134002520
NM_001292063.2(OTOG):c.6934-2A>G
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7480+1G>A rs1374254106
NM_001292063.2(OTOG):c.7489C>T (p.Gln2497Ter) rs2133709057
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617
NM_001292063.2(OTOG):c.7586-1_7586delinsTT
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_001292063.2(OTOG):c.8322C>A (p.Cys2774Ter)
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
NM_001292063.2(OTOG):c.94+82_94+92del

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