ClinVar Miner

List of variants in gene PEX6 reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1962-1G>A rs267608229
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
PEX6, 269-BP DEL/21-BP INS

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