ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Santos-Cortez Lab,University of Colorado School of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Santos-Cortez Lab,University of Colorado School of Medicine: Collection method of the submission from Santos-Cortez Lab,University of Colorado School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP
NM_004100.4(EYA4):c.1109G>A (p.Arg370His) rs143936434
NM_004403.3(GSDME):c.1277_1279delATG (p.Asp426del) rs374353052

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