ClinVar Miner

List of variants reported as likely pathogenic for Arthrogryposis, renal dysfunction, and cholestasis 1 by Molecular Diagnostics Laboratory, Seoul National University Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018668.5(VPS33B):c.239+5G>A	rs372769808	0.00001
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)	rs2544229925

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