ClinVar Miner

List of variants in gene KNG1 reported as affects for congenital high-molecular-weight kininogen deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001102416.3(KNG1):c.1126-538_1126-512delinsGGTGGTGGTGGTGGTGGTTTGTTTTTGG rs869320718
NM_001102416.3(KNG1):c.1216dup (p.His406fs) rs797044430
NM_001102416.3(KNG1):c.1493del (p.Lys498fs) rs797044429

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