ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_000287.3(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.3(PEX6):c.133_147dup (p.Gly49_Pro50insGluSerProAlaGly) rs1421584986
NM_000287.3(PEX6):c.1446_1448delTGC (p.Ala483del) rs1554127389
NM_000287.3(PEX6):c.202_219del18 (p.Gly68_Gln73del) rs1162020526
NM_000287.3(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.3(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.3(PEX6):c.254_259dup (p.Leu86_Gly87insAlaLeu) rs1554128546
NM_000287.3(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.3(PEX6):c.275_280dup (p.Arg93_Ala94insValArg) rs61752142
NM_000287.3(PEX6):c.2764_2765delAT (p.Met922Aspfs) rs1554126781
NM_000287.3(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.3(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.3(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.3(PEX6):c.544_546delGTG (p.Val182del) rs1554128449
NM_000287.3(PEX6):c.551_553delCCT (p.Ser184del) rs1554128446
NM_000287.3(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.3(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.3(PEX6):c.718G>A (p.Ala240Thr) rs886061412

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