ClinVar Miner

List of variants reported as pathogenic by Harbour Laboratory, University of Miami Miller School of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001377142.1(PLCB4):c.1924G>T (p.Asp642Tyr)	rs1568763104
NM_004656.4(BAP1):c.932-8_960del	rs1559588632

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