ClinVar Miner

List of variants reported for Autosomal recessive nonsyndromic hearing loss 12 by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006 0.00001

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