ClinVar Miner

List of variants reported as uncertain significance for Thromboembolism by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_021870.3(FGG):c.447C>A (p.Asn149Lys) rs751435976 0.00004
NM_000130.5(F5):c.4862G>A (p.Arg1621Gln) rs764766417 0.00003
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.77-1346A>G rs767606472 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_021870.3(FGG):c.185T>C (p.Val62Ala) rs1578812818

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