ClinVar Miner

List of variants in gene SEC23B reported as pathogenic for PTEN hamartoma tumor syndrome

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly) rs752366963
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272Metfs)

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