ClinVar Miner

List of variants reported as likely pathogenic for auditory system disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_001292063.2(OTOG):c.5506C>T (p.Gln1836Ter) rs2134091591
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002

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