ClinVar Miner

List of variants in gene PEX5 reported as benign for Peroxisome biogenesis disorder 2B

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001351132.2(PEX5):c.471C>T (p.Ala157=) rs144331955 0.00108
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp) rs200020561 0.00103
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001351132.2(PEX5):c.381T>C (p.Asp127=) rs201467035 0.00001
NM_001351132.2(PEX5):c.1394+14dup rs1186018434
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-15_148-12del rs774517551
NM_001351132.2(PEX5):c.754-8del
NM_001351132.2(PEX5):c.966+24dup rs1944415107

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