ClinVar Miner

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

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
NM_018668.5(VPS33B):c.-325T>C rs11073967 0.57234
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=) rs16945153 0.05737
NM_018668.5(VPS33B):c.609A>G (p.Ala203=) rs76867988 0.02746
NM_018668.5(VPS33B):c.648C>T (p.Gly216=) rs59648701 0.01941
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=) rs148071246 0.00686
NM_018668.5(VPS33B):c.-271A>C rs116461458 0.00418
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=) rs147407982 0.00416
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_018668.5(VPS33B):c.-7C>G rs2289617 0.00117

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