ClinVar Miner

List of variants in gene OTOG reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter) rs1234811014 0.00006
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.5194C>T (p.Gln1732Ter) rs1000615556 0.00001
NM_001292063.2(OTOG):c.6555G>A (p.Trp2185Ter) rs1193023501 0.00001
NM_001292063.2(OTOG):c.7585+2T>C rs1401870617 0.00001
NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.3718A>T (p.Lys1240Ter) rs2497504527
NM_001292063.2(OTOG):c.457_466del (p.Gly153fs) rs2497368023
NM_001292063.2(OTOG):c.4768del (p.Arg1590fs) rs2497531947
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_001292063.2(OTOG):c.5616dup (p.Ala1873fs) rs2478541571
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.7072+1G>A rs2497608352
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7633C>T (p.Gln2545Ter) rs1854232508

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