ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from any submitter

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448

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