ClinVar Miner

List of variants in gene PEX2 reported as pathogenic for adrenal gland disease

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_001079867.1(PEX2):c.865dup (p.Ser289Lysfs) rs724160029

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