ClinVar Miner

List of variants in gene LDLR reported as pathogenic by UCSF Pediatric Lipid Clinic, University of California, San Francisco

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.11087732_11090710del
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.337dup (p.Glu113fs) rs752191968

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