ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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: 22
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HGVS dbSNP
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile) rs759128787
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.2799T>G (p.Ser933Arg) rs765916932
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3383G>A (p.Arg1128His) rs1405268319
NM_002693.2(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.2(POLG):c.3526T>C (p.Ser1176Pro) rs763205408
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468

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