ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "uncertain significance" 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: 8
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HGVS dbSNP
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
Single allele

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