List of variants reported as pathogenic for Familial hemophagocytic lymphohistiocytosis 5 by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
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.194G>A (p.Arg65Gln)	rs141717050	0.00004
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp)	rs769717341	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.1452+1G>A
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_006949.4(STXBP2):c.430-1G>A
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	rs1599397070
NM_006949.4(STXBP2):c.607del (p.His203fs)	rs2031907358
NM_006949.4(STXBP2):c.693_695del (p.Ile232del)	rs1599398298
NM_006949.4(STXBP2):c.87+2T>C

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