ClinVar Miner

List of variants in gene PEX6 reported by OMIM

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Total variants: 15
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HGVS dbSNP
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
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.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
PEX6, 1-BP DEL, 1301C
PEX6, 1-BP INS, NT511
PEX6, 20-BP DEL/1-BP INS
PEX6, 269-BP DEL/21-BP INS
PEX6, IVS3DS, G-A, +1
PEX6, IVS7, G-A, +1
PEX6, IVSAS, G-A, -1, 8-BP DEL

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