ClinVar Miner

Variants with conflicting interpretations "likely benign" 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: 5
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HGVS dbSNP
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293

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