ClinVar Miner

List of variants reported as pathogenic for Familial hemophagocytic lymphohistiocytosis 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)	rs200430442	0.00005
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	rs28933973	0.00001
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)	rs550073023	0.00001

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