ClinVar Miner

Variants with conflicting interpretations "pathogenic" 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: 62
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HGVS dbSNP
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+1G>T rs140989450
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.138+1G>A rs747351687
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.278-1G>A
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) rs796052888
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.3104+1G>A rs138917386
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3483-4_3497del rs756325504
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002693.3(POLG):c.3286C>T rs201732356
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610

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