ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 13A (Zellweger) by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506

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