ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Elsea Laboratory, Baylor College of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Elsea Laboratory, Baylor College of Medicine: Collection method of the submission from Elsea Laboratory, Baylor College of Medicine:
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_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter) rs139044238 0.00088
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593
Single allele

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