ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301

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