ClinVar Miner

List of variants studied for prekallikrein deficiency by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951 0.00029
NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter) rs1303557405
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs) rs768319200
NM_000892.5(KLKB1):c.143_221+128del
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn) rs142420360

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