ClinVar Miner

List of variants in gene PEX3 studied for peripheral neuropathy

Included ClinVar conditions (517):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_003630.3(PEX3):c.524-19T>C rs22908 0.36866
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_003630.3(PEX3):c.*958T>C rs41285019 0.00578
NM_003630.3(PEX3):c.*220G>A rs117247312 0.00495
NM_003630.3(PEX3):c.-4A>G rs116692495 0.00446
NM_003630.3(PEX3):c.-96G>T rs375554173 0.00220
NM_003630.2(PEX3):c.-247T>C rs138955442 0.00187
NM_003630.3(PEX3):c.*321A>T rs1030569248 0.00132
NM_003630.3(PEX3):c.*391G>A rs140007169 0.00129
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_003630.3(PEX3):c.*129C>T rs41285017 0.00058
NM_003630.3(PEX3):c.*1335A>G rs9403495 0.00037
NM_003630.3(PEX3):c.*677C>T rs886061136 0.00028
NM_003630.3(PEX3):c.*895G>A rs3804545 0.00027
NM_003630.3(PEX3):c.*287A>G rs779692327 0.00023
NM_003630.3(PEX3):c.915C>A (p.Asp305Glu) rs201981448 0.00011
NM_003630.3(PEX3):c.*1332A>G rs886061138 0.00010
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270 0.00010
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_003630.3(PEX3):c.*424T>C rs189379544 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_003630.3(PEX3):c.*573A>G rs886061135 0.00004
NM_003630.3(PEX3):c.-186C>T rs993758988 0.00004
NM_003630.3(PEX3):c.332-9T>A rs774963514 0.00004
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608 0.00003
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910 0.00002
NM_003630.3(PEX3):c.*978C>T rs777447974 0.00001
NM_003630.3(PEX3):c.-175G>C rs545482337 0.00001
NM_003630.3(PEX3):c.-214G>C rs886061129 0.00001
NM_003630.3(PEX3):c.-231G>C rs1037688328 0.00001
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter) rs1243154971 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197 0.00001
NM_003630.3(PEX3):c.810G>A (p.Met270Ile) rs747026967 0.00001
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) rs201179294 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*1226A>T rs999619029
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*307TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*377C>T rs1584020851
NM_003630.3(PEX3):c.*708A>G rs1780365449
NM_003630.3(PEX3):c.*742A>G rs1780365756
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*822A>G rs1780366359
NM_003630.3(PEX3):c.*985T>G rs1212183517
NM_003630.3(PEX3):c.-150CT[3] rs886061131
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_003630.3(PEX3):c.1048A>C (p.Thr350Pro) rs1780354202
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
NM_003630.3(PEX3):c.16T>C (p.Trp6Arg) rs769405267
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
NM_003630.3(PEX3):c.206-14del rs397705490
NM_003630.3(PEX3):c.292_302del (p.Ser98fs) rs748689554
NM_003630.3(PEX3):c.331+1G>C
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile) rs1780065436
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala) rs1780071841
NM_003630.3(PEX3):c.543dup (p.Val182fs)
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
NM_003630.3(PEX3):c.74G>T (p.Gly25Val)
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003630.3(PEX3):c.942-8T>G rs267608193

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