ClinVar Miner

List of variants studied for inherited thrombophilia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (31):
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.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) rs767626189 0.00004
NM_000488.4(SERPINC1):c.347C>T (p.Ser116Phe)

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