ClinVar Miner

List of variants in gene PEX2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000318.3(PEX2):c.477G>A (p.Gln159=) rs35218706 0.00178
NM_000318.3(PEX2):c.722G>T (p.Gly241Val) rs150734057 0.00067
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196 0.00064
NM_000318.3(PEX2):c.237A>G (p.Ser79=) rs138220337 0.00063
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.596G>C (p.Gly199Ala) rs371151521 0.00006
NM_000318.3(PEX2):c.738A>G (p.Leu246=) rs376101275 0.00006
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519 0.00004
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500 0.00003
NM_000318.3(PEX2):c.174G>A (p.Ala58=) rs150987080 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala) rs935435870 0.00001
NM_000318.3(PEX2):c.579G>A (p.Arg193=) rs1395525519 0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421 0.00001
NM_000318.3(PEX2):c.19A>C (p.Asn7His) rs576066189
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.551G>T (p.Cys184Phe) rs1266603500
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) rs143986865
NM_000318.3(PEX2):c.67C>T (p.Leu23Phe) rs886043483
NM_000318.3(PEX2):c.748T>G (p.Trp250Gly) rs142645936
NM_000318.3(PEX2):c.773G>C (p.Gly258Ala) rs1428046580
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000318.3(PEX2):c.865A>G (p.Ser289Gly) rs1563605751

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