List of variants reported as pathogenic by Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
NC_000019.10:g.41952441_42266625del
NC_000019.10:g.41983952_42247520del
NC_000019.10:g.42032860_42297536del
NC_000019.10:g.42227530_42259211del

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