ClinVar Miner

List of variants in gene VPS33B studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001289149.1(VPS33B):c.-123T>C rs121434385
NM_018668.4(VPS33B):c.*125C>T rs76401688
NM_018668.4(VPS33B):c.*155A>G rs886051555
NM_018668.4(VPS33B):c.*262T>G rs886051554
NM_018668.4(VPS33B):c.-131G>A rs755401805
NM_018668.4(VPS33B):c.-137A>G rs886051557
NM_018668.4(VPS33B):c.-269T>C rs561174112
NM_018668.4(VPS33B):c.-271A>C rs116461458
NM_018668.4(VPS33B):c.-299T>G rs773762275
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.-335C>T rs886051558
NM_018668.4(VPS33B):c.-8C>T rs11542639
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro) rs864622006
NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639
NM_018668.4(VPS33B):c.1170+5G>A rs201431055
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1259_1260CA[1] (p.Gln421fs) rs398122408
NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) rs147407982
NM_018668.4(VPS33B):c.133C>A (p.Leu45Ile) rs199874738
NM_018668.4(VPS33B):c.136A>T (p.Met46Leu) rs202141764
NM_018668.4(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.4(VPS33B):c.151C>A (p.Arg51=) rs11542638
NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
NM_018668.4(VPS33B):c.1591C>T (p.Arg531Trp) rs758814929
NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.4(VPS33B):c.1656A>T (p.Thr552=) rs16945153
NM_018668.4(VPS33B):c.1671A>G (p.Glu557=) rs148071246
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) rs146999653
NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg)
NM_018668.4(VPS33B):c.240-13_240-12del rs111274092
NM_018668.4(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) rs149733667
NM_018668.4(VPS33B):c.403+2T>A rs769333468
NM_018668.4(VPS33B):c.404-14C>G rs886051556
NM_018668.4(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_018668.4(VPS33B):c.554_555CT[2] (p.Tyr187fs)
NM_018668.4(VPS33B):c.597C>T (p.Cys199=) rs60198611
NM_018668.4(VPS33B):c.609A>G (p.Ala203=) rs76867988
NM_018668.4(VPS33B):c.648C>T (p.Gly216=) rs59648701
NM_018668.4(VPS33B):c.680A>G (p.His227Arg) rs760894269
NM_018668.4(VPS33B):c.700+1G>A rs794726658
NM_018668.4(VPS33B):c.868C>T (p.Arg290Trp) rs750350100
NM_018668.4(VPS33B):c.941G>A (p.Arg314His) rs201698361
NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln) rs145303578
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]

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