ClinVar Miner

List of variants studied for Autosomal dominant auditory neuropathy 1 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00003
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252 0.00001

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