List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.1146del (p.Lys383fs)	rs2146226413
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_006949.4(STXBP2):c.693_695del (p.Ile232del)	rs1599398298

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