ClinVar Miner

List of variants reported as pathogenic 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.1247-1G>C	rs140148806	0.00024
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	rs121918540	0.00001
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587

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