ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Baylor Genetics

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp) rs769717341 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)
NM_006949.4(STXBP2):c.1071C>T (p.Phe357=) rs2031968313
NM_006949.4(STXBP2):c.1107+2T>G
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1179del (p.Leu394fs)
NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)
NM_006949.4(STXBP2):c.1356+1G>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)
NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1538+1G>C
NM_006949.4(STXBP2):c.1538+2T>C
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)
NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)
NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)
NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)
NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)
NM_006949.4(STXBP2):c.290dup (p.Thr98fs)
NM_006949.4(STXBP2):c.37+5G>A
NM_006949.4(STXBP2):c.429+1G>A
NM_006949.4(STXBP2):c.430-1G>A
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.578+2T>C
NM_006949.4(STXBP2):c.607del (p.His203fs) rs2031907358
NM_006949.4(STXBP2):c.652dup (p.Ser218fs)
NM_006949.4(STXBP2):c.693_695del (p.Ile232del) rs1599398298
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.87+2T>C

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