ClinVar Miner

Variants with conflicting interpretations "benign" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "uncertain significance" 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: 10
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HGVS dbSNP
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1077+15C>T rs202237278
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.343-14T>C
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1850G>A (p.Arg617His) rs779961986
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117

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