ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001

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