ClinVar Miner

List of variants in gene F5 reported as pathogenic for congenital factor V deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs) rs773569662 0.00003
NM_000130.5(F5):c.1600C>T (p.Arg534Ter) rs770011773 0.00001
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter) rs118203909 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.1042_1049del (p.Lys348fs) rs2101829195
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000130.5(F5):c.2521del (p.Gln841fs)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
NM_000130.5(F5):c.2780del (p.Pro927fs)
NM_000130.5(F5):c.286G>C (p.Asp96His)
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
NM_000130.5(F5):c.3322del (p.Thr1108fs)
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
NM_000130.5(F5):c.3799del (p.Leu1267fs)
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) rs2101818393
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
NM_000130.5(F5):c.4096del (p.Leu1366fs) rs1659825695
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
NM_000130.5(F5):c.5037dup (p.Ser1680fs) rs754982088
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
NM_000130.5(F5):c.5261del (p.Gly1754fs)
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs) rs2101810760
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
NM_000130.5(F5):c.597_598del (p.Glu200fs)
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
NM_000130.5(F5):c.987C>A (p.Cys329Ter)

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