ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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: 25
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HGVS dbSNP
NC_000006.11:g.5610223_5726369del
NC_012920.1:m.8851T>C rs199476136
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573
NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val) rs397514612
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr) rs397514611
m.12706T>C rs267606893
m.3635G>A rs397515507
m.4171C>A rs28616230

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