ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Diagnostics Lab, Nemours Children's Health, Delaware and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware: Collection method of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware:
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.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511

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