ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "pathogenic" 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: 8
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HGVS dbSNP
NC_012920.1:m.3928G>C rs587776442
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392

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