List of variants reported as likely pathogenic for arthrogryposis, renal dysfunction, and cholestasis 1

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018668.5(VPS33B):c.239+5G>A	rs372769808	0.00001
NM_018668.5(VPS33B):c.498+4A>G	rs532940784	0.00001
NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter)	rs2151662496
NM_018668.5(VPS33B):c.1752_1753delinsGGGCAGAGAGAAA (p.Arg585fs)
NM_018668.5(VPS33B):c.454CTG[1] (p.Leu153del)
NM_018668.5(VPS33B):c.498G>C (p.Leu166=)	rs1555459218
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs)	rs1596358564
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)

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