ClinVar Miner

List of variants in gene OTOG reported as likely pathogenic for Rare genetic deafness

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.4657G>T (p.Gly1553Ter) rs897822685 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617

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