ClinVar Miner

Variants in gene OTOF with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.4961-1G>A rs2148024902
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) rs111033447
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359

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