ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder 13A (Zellweger) by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047

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