ClinVar Miner

List of variants reported as uncertain significance for Familial hemophagocytic lymphohistiocytosis 5 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val)	rs753737127	0.00001
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	rs1599397070

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