ClinVar Miner

List of variants in gene PEX2 reported as pathogenic for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NC_000008.10:g.(?_77892493)_(77912525_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)del
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter) rs1297517393
NM_000318.3(PEX2):c.113del (p.Thr38fs)
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter) rs61752118
NM_000318.3(PEX2):c.118del (p.Cys40fs)
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) rs2132044757
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.220dup (p.Ala74fs) rs777974798
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.24_25del (p.Lys9fs) rs2132045027
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter) rs2132044384
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.369del (p.Leu123fs)
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter) rs1224224276
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs) rs2132044079
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
NM_000318.3(PEX2):c.416_417del (p.Val139fs) rs2132044032
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs) rs2132043966
NM_000318.3(PEX2):c.470del (p.Phe157fs)
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
NM_000318.3(PEX2):c.524del (p.Ser175fs) rs2132043781
NM_000318.3(PEX2):c.549_550del (p.Ile183fs) rs756891007
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs) rs2132043724
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer) rs2132043667
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.618del (p.Leu207fs) rs2132043567
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
NM_000318.3(PEX2):c.79_80del (p.Lys27fs) rs1261498405
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter) rs149287302

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