List of variants reported as pathogenic for Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)	rs368124813	0.00005
NM_018668.5(VPS33B):c.1225+5G>C	rs398122407	0.00002
NM_018668.5(VPS33B):c.403+2T>A	rs769333468	0.00002
NM_018668.5(VPS33B):c.239+5G>A	rs372769808	0.00001
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)	rs121434384
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)	rs11542638
NM_018668.5(VPS33B):c.319C>T (p.Arg107Ter)	rs1057519063

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