ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5713-2A>G rs111033455 0.00002
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) rs111033370
NM_194248.3(OTOF):c.4228-1G>A rs111033342
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) rs111033446
NM_194248.3(OTOF):c.5925del (p.Leu1976fs) rs111033384
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194248.3(OTOF):c.839del (p.Gly280fs) rs1665944825
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359

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