ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	rs121918540	0.00001
NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys)	rs1364548535

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