List of variants in gene PEX2 reported as uncertain significance for Zellweger spectrum disorders

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)	rs140963177	0.00046
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)	rs148101729	0.00043
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)	rs200065382	0.00030
NM_000318.3(PEX2):c.447T>G (p.Gly149=)	rs375401977	0.00027
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)	rs200868032	0.00022
NM_000318.3(PEX2):c.152G>A (p.Arg51His)	rs549242503	0.00010
NM_000318.3(PEX2):c.288G>A (p.Gln96=)	rs370236723	0.00008
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)	rs199874465	0.00007
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)	rs138590115	0.00004
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)	rs750212948	0.00004
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)	rs549932565	0.00004
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys)	rs747222660	0.00004
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)	rs746008519	0.00004
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)	rs199845625	0.00003
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)	rs1266603500	0.00003
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)	rs1264938864	0.00003
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)	rs544763390	0.00002
NM_000318.3(PEX2):c.129A>G (p.Gly43=)	rs779946897	0.00001
NM_000318.3(PEX2):c.23C>T (p.Ala8Val)	rs148428490	0.00001
NM_000318.3(PEX2):c.312C>G (p.Ile104Met)	rs1242924229	0.00001
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)	rs774994658	0.00001
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)	rs755169713	0.00001
NM_000318.3(PEX2):c.466A>G (p.Ile156Val)	rs148972539	0.00001
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)	rs1277419329	0.00001
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)	rs977528373	0.00001
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg)	rs545785018
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)	rs747946744
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)	rs112108739
NM_000318.3(PEX2):c.915T>A (p.Leu305=)	rs1806889622

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