ClinVar Miner

List of variants in gene PEX2 reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000318.3(PEX2):c.*1047T>A rs886063133
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1242A>G rs73691481
NM_000318.3(PEX2):c.*1370A>G rs886063131
NM_000318.3(PEX2):c.*1448C>T rs184740361
NM_000318.3(PEX2):c.*1466_*1468ATT[1] rs552746754
NM_000318.3(PEX2):c.*1561G>A rs886063130
NM_000318.3(PEX2):c.*1602A>G rs557330187
NM_000318.3(PEX2):c.*1716A>G rs192555214
NM_000318.3(PEX2):c.*1755A>G rs886063129
NM_000318.3(PEX2):c.*1765G>A rs60300869
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*1842G>C rs184573256
NM_000318.3(PEX2):c.*1854A>C rs886063127
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2057G>A rs568202276
NM_000318.3(PEX2):c.*2294C>G rs763651452
NM_000318.3(PEX2):c.*2306A>G rs59296540
NM_000318.3(PEX2):c.*233C>G rs190595998
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2518C>T rs886063124
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*2787G>A rs886063123
NM_000318.3(PEX2):c.*2894T>C rs569387185
NM_000318.3(PEX2):c.*2920_*2922del rs746335104
NM_000318.3(PEX2):c.*2973T>C rs751974703
NM_000318.3(PEX2):c.*324G>T rs886063137
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*40G>A rs148915806
NM_000318.3(PEX2):c.*458G>A rs143201132
NM_000318.3(PEX2):c.*489C>T rs886063136
NM_000318.3(PEX2):c.*595C>T rs754113775
NM_000318.3(PEX2):c.*627G>T rs145960090
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.*91A>G rs886063139
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.-17-2A>G rs1289852067
NM_000318.3(PEX2):c.-178C>T rs886063141
NM_000318.3(PEX2):c.-183G>T rs568404564
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302

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