ClinVar Miner

List of variants reported as pathogenic for thrombophilia due to activated protein C resistance

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000130.5(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.439G>T (p.Glu147Ter) rs118203912

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