ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "likely 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: 11
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HGVS dbSNP
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val) rs779901247
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415

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