ClinVar Miner

List of variants in gene OTOG reported as likely pathogenic by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 11
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NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830Ter) rs876657656
NM_001277269.1(OTOG):c.3493C>T (p.Arg1165Ter) rs772430523
NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) rs897822685
NM_001277269.1(OTOG):c.6591G>A (p.Trp2197Ter) rs1193023501
NM_001277269.1(OTOG):c.7621+2T>C rs1401870617
NM_001277269.2(OTOG):c.7389dup rs1157646266
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter)
NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs) rs34547529
NM_001292063.2(OTOG):c.6712G>A (p.Gly2238Ser)

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