ClinVar Miner

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

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
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.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001292063.2(OTOG):c.3186G>A (p.Trp1062Ter) rs766465200 0.00003
NM_001292063.2(OTOG):c.5056C>T (p.Gln1686Ter) rs930688767 0.00003
NM_001292063.2(OTOG):c.5707C>T (p.Arg1903Ter) rs761287044 0.00003
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.3284G>A (p.Trp1095Ter) rs1218807903 0.00001
NM_001292063.2(OTOG):c.4037del (p.Val1346fs) rs1192250435 0.00001
NM_001292063.2(OTOG):c.5747_5750del (p.Gln1916fs) rs1253030003 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001292063.2(OTOG):c.7180C>T (p.Gln2394Ter) rs1462915298 0.00001
NM_001292063.2(OTOG):c.7268-2A>T rs1051452474 0.00001
NM_001292063.2(OTOG):c.7630C>T (p.Arg2544Ter) rs1228522943 0.00001
NM_001292063.2(OTOG):c.925C>T (p.Gln309Ter) rs1302265167 0.00001
NM_001292063.2(OTOG):c.996+1G>T rs757188953 0.00001
NM_001292063.2(OTOG):c.2080+2_2080+12del rs2134025769
NM_001292063.2(OTOG):c.2214C>A (p.Cys738Ter)
NM_001292063.2(OTOG):c.2322_2323dup (p.Ser775fs)
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2839dup (p.Asp947fs)
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
NM_001292063.2(OTOG):c.3967C>T (p.Gln1323Ter)
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.4507del (p.Ala1503fs)
NM_001292063.2(OTOG):c.4985del (p.Gly1662fs) rs1565116526
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.49_53del (p.Pro17fs)
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5435dup (p.Val1813fs)
NM_001292063.2(OTOG):c.5811dup (p.Thr1938fs)
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6330del (p.Phe2111fs)
NM_001292063.2(OTOG):c.6637C>T (p.Gln2213Ter) rs923873445
NM_001292063.2(OTOG):c.6694C>T (p.Gln2232Ter)
NM_001292063.2(OTOG):c.7422del (p.Phe2474fs) rs2133707948
NM_001292063.2(OTOG):c.755del (p.Asp252fs)
NM_001292063.2(OTOG):c.7781_7784dup (p.Tyr2596fs) rs2133710981
NM_001292063.2(OTOG):c.906G>A (p.Trp302Ter)

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