Variants with conflicting interpretations "pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely pathogenic" from Institute of Human Genetics, University of Leipzig Medical Center

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:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 6

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00006
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)	rs745993071	0.00001
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003

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