ClinVar Miner

List of variants studied for Arthrogryposis, renal dysfunction, and cholestasis 1 by Ege University Pediatric Genetics, Ege University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.1179+1G>A rs1594895847
NM_001193315.2(VIPAS39):c.20del (p.Asp7fs) rs1594929571

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