ClinVar Miner

List of variants in gene PEX1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 78
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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.358-11G>C rs113104510 0.04075
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00171
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00145
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00064
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00055
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00034
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.1268A>G (p.Asn423Ser) rs200857848 0.00019
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00015
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00013
NM_000466.3(PEX1):c.666T>C (p.Thr222=) rs145609203 0.00010
NM_000466.3(PEX1):c.88C>T (p.His30Tyr) rs375045292 0.00009
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln) rs139797041 0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00006
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.2022G>A (p.Pro674=) rs767491362 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn) rs775546711 0.00003
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe) rs145471560 0.00003
NM_000466.3(PEX1):c.1827C>T (p.Ala609=) rs766421421 0.00003
NM_000466.3(PEX1):c.2584-12T>G rs1320590069 0.00003
NM_000466.3(PEX1):c.2584-13_2584-12insG rs955834633 0.00003
NM_000466.3(PEX1):c.2584-21_2584-20insA rs761456388 0.00003
NM_000466.3(PEX1):c.2719-4A>G rs762436079 0.00003
NM_000466.3(PEX1):c.363G>T (p.Leu121=) rs200866361 0.00003
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000466.3(PEX1):c.2269T>C (p.Leu757=) rs776758878 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1359+10A>G rs1452023751 0.00001
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val) rs892831590 0.00001
NM_000466.3(PEX1):c.1689C>T (p.Gly563=) rs776917285 0.00001
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409 0.00001
NM_000466.3(PEX1):c.1981C>T (p.Leu661=) rs1480419846 0.00001
NM_000466.3(PEX1):c.2416+20C>T rs886038302 0.00001
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.1136_1140del (p.Glu379fs)
NM_000466.3(PEX1):c.1137G>A (p.Glu379=) rs2484702083
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly) rs73404416
NM_000466.3(PEX1):c.1240-10del rs1298492061
NM_000466.3(PEX1):c.1300C>T (p.Pro434Ser)
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1587A>G (p.Gln529=) rs2484685600
NM_000466.3(PEX1):c.1588-4G>C rs2484682187
NM_000466.3(PEX1):c.1731C>A (p.Arg577=) rs2116181294
NM_000466.3(PEX1):c.1762_1763delinsTT (p.Ala588Leu)
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2253T>C (p.Asn751=) rs769925670
NM_000466.3(PEX1):c.2472G>A (p.Ala824=) rs764437476
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2584-9G>C rs370692491
NM_000466.3(PEX1):c.2666T>C (p.Leu889Ser)
NM_000466.3(PEX1):c.2719-6C>T rs2116111275
NM_000466.3(PEX1):c.2766T>G (p.Val922=) rs2116110796
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.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+10A>G rs1792887415
NM_000466.3(PEX1):c.598C>T (p.His200Tyr)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.99G>C (p.Arg33=) rs2484725536

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