List of variants reported as pathogenic for Hereditary factor IX deficiency disease by ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000133.4(F9):c.316G>A (p.Gly106Ser)	rs137852233	0.00004
NM_000133.4(F9):c.224G>A (p.Arg75Gln)	rs137852228	0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His)	rs137852238	0.00001
NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	rs137852253
NM_000133.4(F9):c.1010C>T (p.Ala337Val)
NM_000133.4(F9):c.1025C>T (p.Thr342Met)	rs137852254
NM_000133.4(F9):c.1235G>A (p.Gly412Glu)
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr)	rs1385141619
NM_000133.4(F9):c.1324G>A (p.Gly442Arg)	rs137852267
NM_000133.4(F9):c.1359G>A (p.Trp453Ter)
NM_000133.4(F9):c.223C>T (p.Arg75Ter)	rs137852227
NM_000133.4(F9):c.520+13A>G	rs1603265507
NM_000133.4(F9):c.720G>A (p.Trp240Ter)	rs1603265830
NM_000133.4(F9):c.835G>A (p.Ala279Thr)	rs137852247
NM_000133.4(F9):c.880C>T (p.Arg294Ter)	rs137852248
NM_000133.4(F9):c.881G>A (p.Arg294Gln)	rs137852249
NM_000133.4(F9):c.952C>T (p.Leu318Phe)
NM_000133.4(F9):c.969_975del (p.Pro324fs)

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