ClinVar Miner

List of variants in gene PEX5 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.847-206T>C rs879850304 0.07616
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
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.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.147+59A>C rs183090244 0.00004
NM_001351132.2(PEX5):c.135G>C (p.Pro45=) rs761885230
NM_001351132.2(PEX5):c.147+148T>G
NM_001351132.2(PEX5):c.147+33A>G rs1232409580
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=) rs200215904
NM_001351132.2(PEX5):c.246C>T (p.Phe82=) rs1591647900
NM_001351132.2(PEX5):c.449-112G>A
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)
NM_001351132.2(PEX5):c.753+92T>C
NM_001351132.2(PEX5):c.837A>G (p.Ser279=) rs2136159396
NM_001351132.2(PEX5):c.847-202_847-201insGA rs148612827
NM_001351132.2(PEX5):c.847-248C>G rs77071280

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