ClinVar Miner

List of variants in gene VPS33B reported as pathogenic for Arthrogryposis, renal dysfunction, and cholestasis 1

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Total variants: 17
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HGVS dbSNP gnomAD frequency
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.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter) rs1263540507 0.00001
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter) rs773306000
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.5(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.5(VPS33B):c.350del (p.Pro117fs) rs1555459968
NM_018668.5(VPS33B):c.700+1G>A rs794726658
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter) rs2041122746
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) rs121434385

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