ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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Gene type:
ClinVar version:
Total variants: 8
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NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1811delinsCT (p.Arg604fs) rs1555806529
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.2311+10G>A rs1568614967
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035

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