ClinVar Miner

List of variants studied for Arthrogryposis, renal dysfunction, and cholestasis 1 by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.350del (p.Pro117fs) rs1555459968

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