ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_018668.4(VPS33B):c.-271A>C rs116461458
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.-8C>T rs11542639
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) rs147407982
NM_018668.4(VPS33B):c.151C>A (p.Arg51=) rs11542638
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
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.357G>A (p.Lys119=) rs146758743
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_018668.5(VPS33B):c.-7C>G

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