ClinVar Miner

List of variants in gene PEX2 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.*319A>G rs78045204 0.00610
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000318.3(PEX2):c.*1842G>C rs184573256 0.00523
NM_000318.3(PEX2):c.*1040C>G rs139337482 0.00490
NM_000318.3(PEX2):c.*2443A>G rs76770837 0.00372
NM_000318.3(PEX2):c.*789C>T rs144050052 0.00361
NM_000318.3(PEX2):c.*1448C>T rs184740361 0.00303
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.722G>T (p.Gly241Val) rs150734057 0.00067
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196 0.00064
NM_000318.3(PEX2):c.*1765G>A rs60300869 0.00063
NM_000318.3(PEX2):c.237A>G (p.Ser79=) rs138220337 0.00063
NM_000318.3(PEX2):c.*2004C>T rs117344716 0.00048
NM_000318.3(PEX2):c.*233C>G rs190595998 0.00046
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00008
NM_000318.3(PEX2):c.570C>T (p.Tyr190=) rs769765158 0.00008
NM_000318.3(PEX2):c.738A>G (p.Leu246=) rs376101275 0.00006
NM_000318.3(PEX2):c.642G>A (p.Gln214=) rs1201496727 0.00005
NM_000318.3(PEX2):c.798C>T (p.Phe266=) rs143661965 0.00005
NM_000318.3(PEX2):c.222C>T (p.Ala74=) rs370886270 0.00004
NM_000318.3(PEX2):c.621C>G (p.Leu207=) rs1364915907 0.00004
NM_000318.3(PEX2):c.174G>A (p.Ala58=) rs150987080 0.00002
NM_000318.3(PEX2):c.732C>T (p.Cys244=) rs142121434 0.00002
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488 0.00002
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000318.3(PEX2):c.105C>T (p.Ser35=) rs1424842404 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.252G>A (p.Lys84=) rs1294597760 0.00001
NM_000318.3(PEX2):c.327T>C (p.Cys109=) rs746604322 0.00001
NM_000318.3(PEX2):c.348A>G (p.Leu116=) rs777560932 0.00001
NM_000318.3(PEX2):c.45A>G (p.Leu15=) rs761947470 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000318.3(PEX2):c.579G>A (p.Arg193=) rs1395525519 0.00001
NM_000318.3(PEX2):c.606A>G (p.Glu202=) rs376974246 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828 0.00001
NM_000318.3(PEX2):c.714C>T (p.Ala238=) rs1432397833 0.00001
NM_000318.3(PEX2):c.729A>G (p.Glu243=) rs931982876 0.00001
NM_000318.3(PEX2):c.768C>T (p.Thr256=) rs1806896232 0.00001
NM_000318.3(PEX2):c.882A>G (p.Lys294=) rs1244697838 0.00001
NM_000318.3(PEX2):c.891C>T (p.Ile297=) rs995695713 0.00001
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000318.3(PEX2):c.-17-41G>T rs10957830
NM_000318.3(PEX2):c.108G>A (p.Gln36=) rs113065004
NM_000318.3(PEX2):c.111T>C (p.Phe37=)
NM_000318.3(PEX2):c.114T>G (p.Thr38=) rs2132044827
NM_000318.3(PEX2):c.120C>T (p.Cys40=) rs1586070272
NM_000318.3(PEX2):c.123T>C (p.Phe41=)
NM_000318.3(PEX2):c.126T>C (p.His42=)
NM_000318.3(PEX2):c.12A>G (p.Arg4=)
NM_000318.3(PEX2):c.142C>T (p.Leu48=)
NM_000318.3(PEX2):c.144G>T (p.Leu48=)
NM_000318.3(PEX2):c.147A>G (p.Leu49=) rs1257241388
NM_000318.3(PEX2):c.15A>G (p.Lys5=) rs2132045059
NM_000318.3(PEX2):c.162A>C (p.Pro54=) rs2132044722
NM_000318.3(PEX2):c.162A>G (p.Pro54=) rs2132044722
NM_000318.3(PEX2):c.171A>G (p.Lys57=) rs2132044697
NM_000318.3(PEX2):c.174G>C (p.Ala58=) rs150987080
NM_000318.3(PEX2):c.18G>A (p.Glu6=) rs2132045054
NM_000318.3(PEX2):c.190T>C (p.Leu64=)
NM_000318.3(PEX2):c.192G>A (p.Leu64=)
NM_000318.3(PEX2):c.198A>G (p.Arg66=) rs2132044639
NM_000318.3(PEX2):c.201C>T (p.Phe67=)
NM_000318.3(PEX2):c.207C>A (p.Ile69=)
NM_000318.3(PEX2):c.21T>C (p.Asn7=)
NM_000318.3(PEX2):c.231A>G (p.Gly77=)
NM_000318.3(PEX2):c.234G>A (p.Gln78=)
NM_000318.3(PEX2):c.24G>T (p.Ala8=)
NM_000318.3(PEX2):c.285T>C (p.Tyr95=) rs202204148
NM_000318.3(PEX2):c.312C>A (p.Ile104=) rs1242924229
NM_000318.3(PEX2):c.324T>A (p.Val108=)
NM_000318.3(PEX2):c.342G>A (p.Arg114=) rs778787558
NM_000318.3(PEX2):c.351A>G (p.Glu117=) rs2132044225
NM_000318.3(PEX2):c.357A>C (p.Arg119=) rs767740481
NM_000318.3(PEX2):c.369G>A (p.Leu123=)
NM_000318.3(PEX2):c.375A>G (p.Arg125=)
NM_000318.3(PEX2):c.381T>C (p.His127=) rs1806915769
NM_000318.3(PEX2):c.384T>C (p.His128=)
NM_000318.3(PEX2):c.393A>G (p.Ser131=) rs1407170162
NM_000318.3(PEX2):c.399G>A (p.Gly133=) rs760342808
NM_000318.3(PEX2):c.402A>G (p.Lys134=) rs953517125
NM_000318.3(PEX2):c.405C>A (p.Val135=)
NM_000318.3(PEX2):c.429T>A (p.Ile143=)
NM_000318.3(PEX2):c.436T>C (p.Leu146=) rs2132044010
NM_000318.3(PEX2):c.43C>T (p.Leu15=)
NM_000318.3(PEX2):c.450G>T (p.Gly150=) rs2132043975
NM_000318.3(PEX2):c.453G>A (p.Leu151=)
NM_000318.3(PEX2):c.45A>C (p.Leu15=)
NM_000318.3(PEX2):c.465G>A (p.Leu155=)
NM_000318.3(PEX2):c.489T>C (p.Phe163=)
NM_000318.3(PEX2):c.495T>A (p.Thr165=)
NM_000318.3(PEX2):c.495T>C (p.Thr165=)
NM_000318.3(PEX2):c.507T>A (p.Arg169=)
NM_000318.3(PEX2):c.511C>T (p.Leu171=)
NM_000318.3(PEX2):c.513A>G (p.Leu171=) rs2132043808
NM_000318.3(PEX2):c.54C>T (p.Ser18=) rs545785018
NM_000318.3(PEX2):c.555A>G (p.Glu185=)
NM_000318.3(PEX2):c.567A>G (p.Glu189=)
NM_000318.3(PEX2):c.57G>A (p.Gln19=) rs2132044973
NM_000318.3(PEX2):c.585T>C (p.Leu195=)
NM_000318.3(PEX2):c.594T>C (p.His198=)
NM_000318.3(PEX2):c.600T>C (p.Phe200=)
NM_000318.3(PEX2):c.603T>C (p.Ala201=)
NM_000318.3(PEX2):c.621C>T (p.Leu207=)
NM_000318.3(PEX2):c.627A>G (p.Pro209=)
NM_000318.3(PEX2):c.639C>T (p.Val213=)
NM_000318.3(PEX2):c.63T>C (p.Asp21=)
NM_000318.3(PEX2):c.657G>A (p.Lys219=)
NM_000318.3(PEX2):c.678T>C (p.Pro226=) rs2132043403
NM_000318.3(PEX2):c.681T>C (p.Leu227=)
NM_000318.3(PEX2):c.693T>A (p.Pro231=)
NM_000318.3(PEX2):c.693T>C (p.Pro231=)
NM_000318.3(PEX2):c.693T>G (p.Pro231=)
NM_000318.3(PEX2):c.69T>G (p.Leu23=)
NM_000318.3(PEX2):c.6T>C (p.Ala2=)
NM_000318.3(PEX2):c.708A>C (p.Thr236=)
NM_000318.3(PEX2):c.708A>G (p.Thr236=)
NM_000318.3(PEX2):c.717C>T (p.Thr239=) rs2132043284
NM_000318.3(PEX2):c.720T>C (p.Ser240=) rs914631161
NM_000318.3(PEX2):c.726A>G (p.Lys242=) rs2132043260
NM_000318.3(PEX2):c.72A>G (p.Glu24=) rs750660448
NM_000318.3(PEX2):c.735T>C (p.Ala245=)
NM_000318.3(PEX2):c.738A>T (p.Leu246=) rs376101275
NM_000318.3(PEX2):c.73C>T (p.Leu25=) rs1586070356
NM_000318.3(PEX2):c.756C>T (p.Thr252=)
NM_000318.3(PEX2):c.75A>G (p.Leu25=) rs2132044926
NM_000318.3(PEX2):c.765C>T (p.His255=) rs2132043163
NM_000318.3(PEX2):c.771A>T (p.Ile257=) rs1586069200
NM_000318.3(PEX2):c.783T>C (p.His261=) rs1586069185
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000318.3(PEX2):c.828G>A (p.Val276=)
NM_000318.3(PEX2):c.831C>T (p.Tyr277=)
NM_000318.3(PEX2):c.834T>C (p.Phe278=)
NM_000318.3(PEX2):c.843T>C (p.Pro281=)
NM_000318.3(PEX2):c.855A>G (p.Thr285=) rs1806891966
NM_000318.3(PEX2):c.858A>G (p.Glu286=)
NM_000318.3(PEX2):c.85C>T (p.Leu29=) rs1277480138
NM_000318.3(PEX2):c.864C>T (p.His288=)
NM_000318.3(PEX2):c.868C>T (p.Leu290=) rs2132042893
NM_000318.3(PEX2):c.885A>G (p.Ser295=) rs886332712
NM_000318.3(PEX2):c.90G>A (p.Glu30=) rs777639216
NM_000318.3(PEX2):c.912T>C (p.Ala304=) rs1034467919
NM_000318.3(PEX2):c.94C>T (p.Leu32=)
NM_000318.3(PEX2):c.96A>G (p.Leu32=) rs754405926

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