ClinVar Miner

List of variants in gene OTOG reported as pathogenic by GeneDx

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
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.5056C>T (p.Gln1686Ter) rs930688767 0.00003
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529

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