ClinVar Miner

List of variants reported as likely benign for Zellweger spectrum disorders by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_000287.4(PEX6):c.2854C>T (p.Leu952=) rs767430981 0.00001
NM_002857.4(PEX19):c.181-15A>G rs114403769

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