ClinVar Miner

List of variants reported as pathogenic by Northern Blood Research Centre, University of Sydney

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)	rs755459581	0.00001
NM_001377304.1(GFI1B):c.880dup (p.His294fs)	rs397989794
NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)	rs773148506

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