ClinVar Miner

List of variants studied for PHARC syndrome by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006

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