ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from CeGaT Center for Human Genetics Tuebingen

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: 6
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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