ClinVar Miner

List of variants in gene PCSK9 reported as likely benign for abetalipoproteinemia

Included ClinVar conditions (3):
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_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*448dup rs72646533

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