ClinVar Miner

List of variants reported as likely pathogenic by Ege University Pediatric Genetics,Ege University

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Total variants: 5
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NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer) rs1336484333
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer) rs1593914689
NM_020435.4(GJC2):c.591dup (p.His198fs) rs1455411788

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