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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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

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