ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_016239.4(MYO15A):c.5826-12A>C rs854778 0.76256
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123

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