ClinVar Miner

List of variants studied for congenital factor VII deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) rs3093248 0.00113
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_000131.4(F7):c.-60T>C
NM_019616.4(F7):c.1008G>A (p.Met336Ile)
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)
NM_019616.4(F7):c.1051C>T (p.Gln351Ter)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1157A>G (p.His386Arg)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.224C>T (p.Thr75Met)
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.739+1G>A
NM_019616.4(F7):c.739+3_739+6del rs754785708

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