ClinVar Miner

List of variants in gene PEX3 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: 27
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HGVS dbSNP
NM_003630.2(PEX3):c.-247T>C rs138955442
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*129C>T rs41285017
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*1332A>G rs886061138
NM_003630.3(PEX3):c.*1335A>G rs9403495
NM_003630.3(PEX3):c.*220G>A rs117247312
NM_003630.3(PEX3):c.*307_*308TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*391G>A rs140007169
NM_003630.3(PEX3):c.*424T>C rs189379544
NM_003630.3(PEX3):c.*573A>G rs886061135
NM_003630.3(PEX3):c.*677C>T rs886061136
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*895G>A rs3804545
NM_003630.3(PEX3):c.*958T>C rs41285019
NM_003630.3(PEX3):c.-150_-149CT[3] rs886061131
NM_003630.3(PEX3):c.-175G>C rs545482337
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.-214G>C rs886061129
NM_003630.3(PEX3):c.-4A>G rs116692495
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910

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