ClinVar Miner

List of variants in gene VPS33B studied for arthrogryposis, renal dysfunction, and cholestasis 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 88
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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.*125C>T rs76401688 0.00431
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.-269T>C rs561174112 0.00367
NM_018668.5(VPS33B):c.363T>C (p.Tyr121=) rs149733667 0.00337
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) rs146999653 0.00165
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_018668.5(VPS33B):c.-7C>G rs2289617 0.00117
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.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_018668.5(VPS33B):c.604-14T>C rs143987577 0.00029
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.1170+5G>A rs201431055 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.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.403+2T>A rs769333468 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.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364 0.00001
NM_018668.5(VPS33B):c.239+5G>A rs372769808 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.498+4A>G rs532940784 0.00001
NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter) rs1263540507 0.00001
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) rs1289650070 0.00001
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
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.1130G>C (p.Arg377Pro) rs864622006
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.1591C>T (p.Arg531Trp) rs758814929
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter) rs2151662496
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe) rs2040379043
NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.5(VPS33B):c.1752_1753delinsGGGCAGAGAGAAA (p.Arg585fs)
NM_018668.5(VPS33B):c.240-13_240-12del rs111274092
NM_018668.5(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.5(VPS33B):c.350del (p.Pro117fs) rs1555459968
NM_018668.5(VPS33B):c.454CTG[1] (p.Leu153del)
NM_018668.5(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys) rs139582205
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) rs1596358564
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg) rs770015890
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)
NM_018668.5(VPS33B):c.700+1G>A rs794726658
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter) rs2041122746
NM_018668.5(VPS33B):c.888T>C (p.Asn296=) rs762443300
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) rs121434385

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