ClinVar Miner

List of variants reported as uncertain significance for peroxisome biogenesis disorder 10A (Zellweger)

Included ClinVar conditions (2):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.-96G>T rs375554173 0.00220
NM_003630.3(PEX3):c.*321A>T rs1030569248 0.00132
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.*677C>T rs886061136 0.00028
NM_003630.3(PEX3):c.*287A>G rs779692327 0.00023
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.51C>T (p.Ile17=) rs367803197 0.00001
NM_003630.3(PEX3):c.810G>A (p.Met270Ile) rs747026967 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.*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.1048A>C (p.Thr350Pro) rs1780354202
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile) rs1780065436
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala) rs1780071841
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132

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