ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss 20 by Mendelics

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)	rs2143779274
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)	rs797044730
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)	rs281875327

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