ClinVar Miner

List of variants in gene PEX6 reported as uncertain significance by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00023
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00005
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139 0.00001
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203 0.00001
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.