ClinVar Miner

List of variants in gene VPS33B reported as uncertain significance for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_001289148.1(VPS33B):c.*346A>T
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.-299T>G rs773762275
NM_018668.4(VPS33B):c.-335C>T rs886051558
NM_018668.4(VPS33B):c.1105+10G>A rs370555380
NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639
NM_018668.4(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904
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.1591C>T (p.Arg531Trp) rs758814929
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_018668.4(VPS33B):c.240-9C>T rs781107857
NM_018668.4(VPS33B):c.404-14C>G rs886051556
NM_018668.4(VPS33B):c.662G>A (p.Arg221Gln) rs377754864
NM_018668.4(VPS33B):c.680A>G (p.His227Arg) rs760894269
NM_018668.4(VPS33B):c.75G>A (p.Gln25=) rs1289650070
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_018668.5(VPS33B):c.*10C>T
NM_018668.5(VPS33B):c.*113G>A
NM_018668.5(VPS33B):c.*261T>A
NM_018668.5(VPS33B):c.-120G>A
NM_018668.5(VPS33B):c.-275C>G
NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp)
NM_018668.5(VPS33B):c.1171-6A>G rs370691219
NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His)
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe)
NM_018668.5(VPS33B):c.1775-14A>G
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser)
NM_018668.5(VPS33B):c.499-3C>G
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys)
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg)
NM_018668.5(VPS33B):c.888T>C (p.Asn296=)
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.