ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder 11A (Zellweger) by Invitae

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.914-8dup rs36090948

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