ClinVar Miner

List of variants reported as pathogenic, low penetrance for plasma protein metabolism disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950

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