ClinVar Miner

List of variants in gene OTOG reported as likely pathogenic for not provided

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00088
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
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.3006+1G>A rs769882405 0.00003
NM_001292063.2(OTOG):c.4145T>C (p.Phe1382Ser) rs1190872154 0.00001
NM_001292063.2(OTOG):c.4275-1G>C rs1478750141 0.00001
NM_001292063.2(OTOG):c.4279G>T (p.Glu1427Ter) rs769161471 0.00001
NM_001292063.2(OTOG):c.755del (p.Asp252fs) rs1270911408 0.00001
NC_000011.9:g.(?_17625058)_(17634271_?)del
NM_001292063.2(OTOG):c.1005C>G (p.Tyr335Ter) rs577674003
NM_001292063.2(OTOG):c.1645-1G>A
NM_001292063.2(OTOG):c.2080+2T>G rs2497419394
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 rs1354270268
NM_001292063.2(OTOG):c.3709+1G>C
NM_001292063.2(OTOG):c.386-2A>G
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.45G>A (p.Trp15Ter)
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.6292+2_6292+3del rs1203130034
NM_001292063.2(OTOG):c.659+2T>C rs2134002520
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7480+1G>A rs1374254106
NM_001292063.2(OTOG):c.7481-1G>A
NM_001292063.2(OTOG):c.7489C>T (p.Gln2497Ter) rs2133709057
NM_001292063.2(OTOG):c.7586-1_7586delinsTT rs2497622053
NM_001292063.2(OTOG):c.7694-1G>A
NM_001292063.2(OTOG):c.94+82_94+92del rs1449542511

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