ClinVar Miner

List of variants reported as pathogenic by ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
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_000132.4(F8):c.1214T>C (p.Ile405Thr)
NM_000132.4(F8):c.1244C>T (p.Ala415Val)
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1421G>A (p.Gly474Glu)
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
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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