ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "benign" from any submitter

Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000018.4(ACADVL):c.63-35G>A rs774905326 0.00053
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.753-27C>T rs374911841

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