ClinVar Miner

List of variants in gene PEX6 reported as pathogenic for Heimler syndrome 2

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe) rs886037782
NM_000287.4(PEX6):c.275T>G (p.Val92Gly) rs886037780
NM_000287.4(PEX6):c.2807-2A>G
NM_000287.4(PEX6):c.296G>T (p.Arg99Leu) rs886037781
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
NM_000287.4(PEX6):c.402del (p.Gly135fs)
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.689_690del (p.Glu230fs) rs398123305
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.921_927delinsTCT (p.Ser308fs)

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