ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B by Fulgent Genetics, Fulgent Genetics

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000466.3(PEX1):c.1043_1046del (p.Thr348fs)
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1138A>C (p.Lys380Gln)
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1203del (p.Asn403fs)
NM_000466.3(PEX1):c.1239+2T>A
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1646del (p.Pro549fs)
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1769T>G (p.Leu590Arg)
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1949_1978delinsGGTTGACCTGAG (p.Glu650_Leu660delinsGlyLeuThrTer)
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2071+2T>G
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2156del (p.His719fs)
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
NM_000466.3(PEX1):c.2651del (p.Gly884fs)
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.274-2A>T
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3488del (p.Gly1163fs)
NM_000466.3(PEX1):c.3517C>T (p.Gln1173Ter) rs1562842708
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.3541dup (p.Ser1181fs)
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.3576_3577del (p.Asp1194fs)
NM_000466.3(PEX1):c.3577del (p.Arg1193fs)
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.379del (p.Glu127fs)
NM_000466.3(PEX1):c.434_448delinsGCAA (p.Val145fs)
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.660delinsTGTGGG (p.Asn221fs)
NM_000466.3(PEX1):c.930_931del (p.Ala311fs)
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)

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