ClinVar Miner

List of variants reported as likely pathogenic for Familial hemophagocytic lymphohistiocytosis 5 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NC_000019.9:g.(?_7703306)_(7707110_?)del
NC_000019.9:g.(?_7706571)_(7712696_?)del
NM_006949.4(STXBP2):c.1026+1G>T
NM_006949.4(STXBP2):c.1026+2T>A
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1108-1G>A
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1539-2A>G
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.246+1G>T
NM_006949.4(STXBP2):c.247-1G>T
NM_006949.4(STXBP2):c.247-2A>C rs921624651
NM_006949.4(STXBP2):c.247-2A>G
NM_006949.4(STXBP2):c.247-2_284del
NM_006949.4(STXBP2):c.326-1G>C rs2031844309
NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG
NM_006949.4(STXBP2):c.429+1G>C
NM_006949.4(STXBP2):c.87+1G>A
NM_006949.4(STXBP2):c.87+2T>C
NM_006949.4(STXBP2):c.902+1G>A
NM_006949.4(STXBP2):c.960+1G>T

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