ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
Single allele

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