ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "pathogenic" from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_001195799.2(LDLR):c.190+2358del rs879254440

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