ClinVar Miner

Variants with conflicting interpretations "pathogenic" 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_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_194318.4(B3GLCT):c.660+1G>A rs80338851

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