ClinVar Miner

Variants with conflicting interpretations "benign" from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center: Collection method of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center:
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 gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_000153.4(GALC):c.1162-4del rs11300320

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