ClinVar Miner

List of variants reported as pathogenic for Familial hemophagocytic lymphohistiocytosis 2 by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	rs104894176	0.00003
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	rs28933973	0.00001
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	rs776299562

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