ClinVar Miner

Variants with conflicting interpretations "benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "protective" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) rs2296651
Single allele

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