ClinVar Miner

List of variants in gene PEX1 reported by Eurofins Ntd Llc (ga)

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Gene type:
ClinVar version:
Total variants: 99
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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.358-15G>A rs38809 0.86650
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00261
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00220
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00171
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00145
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00064
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00064
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) rs376883207 0.00017
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe) rs369100815 0.00015
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00013
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00011
NM_000466.3(PEX1):c.2509C>T (p.Leu837=) rs371701421 0.00010
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys) rs748937542 0.00006
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00004
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00004
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2646G>A (p.Pro882=) rs775421085 0.00003
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00003
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000466.3(PEX1):c.357G>A (p.Leu119=) rs1485077349 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 0.00001
NM_000466.3(PEX1):c.1199A>T (p.Tyr400Phe) rs772086409 0.00001
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 0.00001
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val) rs771520057 0.00001
NM_000466.3(PEX1):c.1627G>A (p.Glu543Lys) rs767103504 0.00001
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) rs112747515 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894 0.00001
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00001
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln) rs748798206 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1111A>T (p.Arg371Trp) rs769973410
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp) rs769902926
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn) rs1562862971
NM_000466.3(PEX1):c.1359+5G>A rs727504077
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1484-11_1484-6del rs766638581
NM_000466.3(PEX1):c.1699T>G (p.Leu567Val) rs775665629
NM_000466.3(PEX1):c.1803+1G>T rs1562857871
NM_000466.3(PEX1):c.1892C>A (p.Ala631Asp) rs745554964
NM_000466.3(PEX1):c.1951G>A (p.Ala651Thr) rs1562856189
NM_000466.3(PEX1):c.1954G>T (p.Val652Leu) rs559310827
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2368C>G (p.Arg790Gly) rs61750417
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
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.2584-9_2584-8del rs1554370144
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.273G>A (p.Gln91=) rs1562869817
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.464T>C (p.Ile155Thr) rs1562867275
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.525C>A (p.Leu175=) rs886043502
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.630G>C (p.Met210Ile) rs1562866915
NM_000466.3(PEX1):c.753C>T (p.Ser251=) rs1554375514

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