ClinVar Miner

List of variants studied for coagulation protein disease by Laboratory of Genetic Engineering, National Medical Research Center for Hematology

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849

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