ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001289149.1(VPS33B):c.-123T>C rs121434385
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.4(VPS33B):c.1498G>T (p.Glu500Ter) rs751858602
NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg) rs1596348299
NM_018668.4(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.4(VPS33B):c.403+2T>A rs769333468
NM_018668.4(VPS33B):c.700+1G>A rs794726658
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.350delC rs1555459968

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