ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys) rs1572088737

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