ClinVar Miner

List of variants in gene OTOF reported as pathogenic by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332

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