ClinVar Miner

List of variants in gene LDLR reported as pathogenic for Hypercholesterolaemia

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627

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