ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "likely benign" 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: 27
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.1077+16G>A rs780420241 0.00005
NM_000018.4(ACADVL):c.139-20C>T rs374535729 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_000018.4(ACADVL):c.477+8C>T rs1437698813 0.00002
NM_002693.3(POLG):c.1713-4G>A rs201857960 0.00002
NM_002693.3(POLG):c.3273+8G>A rs776468044 0.00002
NM_000018.4(ACADVL):c.1827+10G>A rs766755156 0.00001
NM_000018.4(ACADVL):c.62+20G>A rs369163211 0.00001
NM_000018.4(ACADVL):c.879-16C>A rs780626099 0.00001
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.753-9C>T rs1262931604

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