ClinVar Miner

List of variants reported as uncertain significance for congenital factor V deficiency by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802

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