ClinVar Miner

List of variants reported as likely pathogenic for Wilson disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00048

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