ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_006949.4(STXBP2):c.1247-43T>C rs929807 0.46002
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_006949.4(STXBP2):c.1696+28G>C rs34976997 0.34997
NM_006949.4(STXBP2):c.1697-26T>G rs794073

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