ClinVar Miner

List of variants in gene F2 reported as pathogenic for coagulation protein disease

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.923_926del (p.Asp308fs)
NM_000506.5(F2):c.954dup (p.Glu319Ter)

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