ClinVar Miner

List of variants in gene OTOF reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.2771A>G (p.Glu924Gly) rs1471175454 0.00003
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_194248.3(OTOF):c.2632G>A (p.Glu878Lys) rs1172733523
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381

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