ClinVar Miner

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

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.*125C>T rs76401688 0.00431
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) rs145303578 0.00116
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_018668.5(VPS33B):c.240-9C>T rs781107857 0.00023
NM_018668.5(VPS33B):c.-131G>A rs755401805 0.00021
NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile) rs199874738 0.00021
NM_018668.5(VPS33B):c.136A>T (p.Met46Leu) rs202141764 0.00021
NM_018668.5(VPS33B):c.-137A>G rs886051557 0.00013
NM_018668.5(VPS33B):c.1171-6A>G rs370691219 0.00013
NM_018668.5(VPS33B):c.*261T>A rs1046418367 0.00011
NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His) rs200539802 0.00011
NM_018668.5(VPS33B):c.1105+10G>A rs370555380 0.00010
NM_018668.5(VPS33B):c.499-3C>G rs201919090 0.00009
NM_018668.5(VPS33B):c.*113G>A rs539260496 0.00007
NM_018668.4(VPS33B):c.*346A>T rs775697883 0.00006
NM_018668.5(VPS33B):c.1775-14A>G rs374202621 0.00006
NM_018668.5(VPS33B):c.662G>A (p.Arg221Gln) rs377754864 0.00006
NM_018668.5(VPS33B):c.680A>G (p.His227Arg) rs760894269 0.00006
NM_018668.5(VPS33B):c.-275C>G rs934677403 0.00004
NM_018668.5(VPS33B):c.-299T>G rs773762275 0.00004
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) rs868354713 0.00004
NM_018668.5(VPS33B):c.868C>T (p.Arg290Trp) rs750350100 0.00004
NM_018668.5(VPS33B):c.941G>A (p.Arg314His) rs201698361 0.00004
NM_018668.5(VPS33B):c.*10C>T rs759825013 0.00002
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp) rs142949901 0.00002
NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp) rs778274271 0.00001
NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904 0.00001
NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364 0.00001
NM_018668.5(VPS33B):c.404-14C>G rs886051556 0.00001
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser) rs748609085 0.00001
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) rs1289650070 0.00001
NM_018668.5(VPS33B):c.*155A>G rs886051555
NM_018668.5(VPS33B):c.*262T>G rs886051554
NM_018668.5(VPS33B):c.-120G>A rs2041131003
NM_018668.5(VPS33B):c.-335C>T rs886051558
NM_018668.5(VPS33B):c.1591C>T (p.Arg531Trp) rs758814929
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe) rs2040379043
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys) rs139582205
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg) rs770015890
NM_018668.5(VPS33B):c.888T>C (p.Asn296=) rs762443300

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