ClinVar Miner

List of variants in gene PEX1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.1804-144A>T rs6465359 0.91679
NM_000466.3(PEX1):c.1359+155C>A rs38807 0.87539
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000466.3(PEX1):c.2584-245A>T rs10953071 0.86496
NM_000466.3(PEX1):c.1670+219T>C rs11767684 0.31565
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_000466.3(PEX1):c.1671-314C>T rs7791858 0.24006
NM_000466.3(PEX1):c.2718+183C>A rs10269874 0.12962
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000466.3(PEX1):c.1803+235A>G rs7809455 0.05706
NM_000466.3(PEX1):c.2417-42T>C rs3213609 0.05567
NM_000466.3(PEX1):c.2719-244G>A rs73710409 0.05413
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000466.3(PEX1):c.1240-279G>A rs112904813 0.04145
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.1360-209G>A rs6946364 0.03237
NM_000466.3(PEX1):c.1360-336A>C rs61492841 0.02935
NM_000466.3(PEX1):c.2718+134A>G rs76587269 0.02817
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000466.3(PEX1):c.2226+139A>G rs111474000 0.01659
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.1239+161C>G rs113848550 0.00886
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.1484-106A>G rs200489532 0.00720
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys) rs748937542 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr) rs2116243553
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.130-180del rs71841826
NM_000466.3(PEX1):c.1484-95del rs5885807
NM_000466.3(PEX1):c.1484-96_1484-95del rs5885807
NM_000466.3(PEX1):c.1670+193del rs202132988
NM_000466.3(PEX1):c.1671-120del rs79143453
NM_000466.3(PEX1):c.1671-66dup rs79002315
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1803+185_1803+187del rs150645900
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1899A>T (p.Arg633=) rs2116175839
NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG rs11269897
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2226+57del rs138118520
NM_000466.3(PEX1):c.2227-11T>A rs760316851
NM_000466.3(PEX1):c.2227-3T>A
NM_000466.3(PEX1):c.2583+136del rs3842627
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser) rs2116247732

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