ClinVar Miner

List of variants reported as likely pathogenic by School of Computer Science, University of Waterloo

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.1006+1G>A	rs573745685	0.00004
NM_001025603.2(RFX5):c.353+2T>G	rs1183832067
NM_020376.4(PNPLA2):c.758-1G>C	rs1318685186

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