ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.568C>T (p.Arg190Ter) rs756151764 0.00002
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter) rs1293477494
NM_019616.4(F7):c.442C>T (p.Arg148Cys)

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