ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) rs146685108 0.00021
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070

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