ClinVar Miner

List of variants in gene PEX6 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000287.4(PEX6):c.1233+1G>A rs763459576
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052

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