ClinVar Miner

List of variants in gene F5 reported as uncertain significance by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000130.5(F5):c.4862G>A (p.Arg1621Gln) rs764766417 0.00003
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 0.00003
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
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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