ClinVar Miner

List of variants studied for carboxypeptidase N deficiency by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507 0.03433
NM_001308.3(CPN1):c.173dup (p.His59fs)
NM_001308.3(CPN1):c.734C>T (p.Thr245Met)

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