ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences and "likely pathogenic" from any submitter

Minimum review status of the submission from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences: Collection method of the submission from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.514G>C (p.Asp172His) rs879254554
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716

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