ClinVar Miner

List of variants reported for Usher syndrome type 3A by Pars Genome Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.254-1924T>A rs6764540 0.79708
NM_174878.3(CLRN1):c.254-1947A>G rs6801898 0.54588
NM_174878.3(CLRN1):c.254-2294A>C rs11914988 0.20293
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_174878.3(CLRN1):c.433+1105C>T rs16846663 0.03733

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