ClinVar Miner

List of variants in gene PEX6 studied for Peroxisome biogenesis disorder 4a (zellweger)

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Total variants: 11
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HGVS dbSNP
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
PEX6, 1-BP DEL, 1301C
PEX6, 1-BP INS, NT511
PEX6, 20-BP DEL/1-BP INS
PEX6, IVS3DS, G-A, +1
PEX6, IVS7, G-A, +1
PEX6, IVSAS, G-A, -1, 8-BP DEL

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