Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from Natera, Inc.

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_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)	rs764776104	0.00002
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	rs779709646	0.00001
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	rs797044680
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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