ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.844G>A (p.Ala282Thr) rs773627551 0.00001
NM_019616.4(F7):c.1058G>A (p.Arg353Gln)
NM_019616.4(F7):c.867_868insCA (p.Val290fs)
NM_019616.4(F7):c.895C>T (p.Leu299Phe)

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