ClinVar Miner

List of variants in gene OTOF reported as uncertain significance for Deafness, autosomal recessive 9

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Total variants: 18
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HGVS dbSNP
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194248.3(OTOF):c.2962_2964TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601
NM_194248.3(OTOF):c.5103+2T>A rs1323329701
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384

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