ClinVar Miner

List of variants in gene PLA2G6 reported as uncertain significance for Infantile neuroaxonal dystrophy

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Gene type:
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Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) rs76718524 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_003560.4(PLA2G6):c.1880-3del rs760482527 0.00014
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_003560.4(PLA2G6):c.1486C>T (p.Leu496Phe) rs368487831 0.00011
NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met) rs144012369 0.00011
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser) rs780423461 0.00010
NM_003560.4(PLA2G6):c.185C>T (p.Pro62Leu) rs377025797 0.00009
NM_003560.4(PLA2G6):c.26A>G (p.Asn9Ser) rs149163431 0.00008
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) rs139579057 0.00006
NM_003560.4(PLA2G6):c.2029C>T (p.Arg677Cys) rs746514704 0.00006
NM_003560.4(PLA2G6):c.209+6T>C rs376015031 0.00006
NM_003560.4(PLA2G6):c.2152G>A (p.Ala718Thr) rs371872005 0.00006
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) rs746217497 0.00004
NM_003560.4(PLA2G6):c.1360C>G (p.Leu454Val) rs758332232 0.00004
NM_003560.4(PLA2G6):c.1375C>T (p.Arg459Trp) rs753484966 0.00004
NM_003560.4(PLA2G6):c.1417G>A (p.Glu473Lys) rs777645662 0.00004
NM_003560.4(PLA2G6):c.394C>T (p.Arg132Cys) rs1219753283 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys) rs767260174 0.00004
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His) rs372511574 0.00004
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.1391C>T (p.Ala464Val) rs376801641 0.00003
NM_003560.4(PLA2G6):c.2104C>T (p.Pro702Ser) rs546061827 0.00003
NM_003560.4(PLA2G6):c.2260G>A (p.Gly754Ser) rs963927447 0.00003
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys) rs777548266 0.00003
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn) rs764199136 0.00002
NM_003560.4(PLA2G6):c.1234G>A (p.Glu412Lys) rs575880571 0.00002
NM_003560.4(PLA2G6):c.1382G>A (p.Arg461Gln) rs541466301 0.00002
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser) rs772131195 0.00002
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) rs11570607 0.00002
NM_003560.4(PLA2G6):c.344G>A (p.Arg115His) rs138040351 0.00002
NM_003560.4(PLA2G6):c.425+3G>T rs747289673 0.00002
NM_003560.4(PLA2G6):c.426-3C>T rs1320080366 0.00002
NM_003560.4(PLA2G6):c.440C>T (p.Ala147Val) rs778963560 0.00002
NM_003560.4(PLA2G6):c.547G>A (p.Asp183Asn) rs11570646 0.00002
NM_003560.4(PLA2G6):c.625G>A (p.Ala209Thr) rs140938545 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_003560.4(PLA2G6):c.803C>T (p.Ala268Val) rs762715738 0.00002
NM_003560.4(PLA2G6):c.971C>T (p.Ala324Val) rs757139688 0.00002
NM_003560.4(PLA2G6):c.1034C>T (p.Ala345Val) rs1164473121 0.00001
NM_003560.4(PLA2G6):c.1036C>T (p.Arg346Cys) rs775645331 0.00001
NM_003560.4(PLA2G6):c.1047C>A (p.His349Gln) rs1037506850 0.00001
NM_003560.4(PLA2G6):c.1048G>A (p.Gly350Ser) rs1213674178 0.00001
NM_003560.4(PLA2G6):c.115C>T (p.Arg39Trp) rs763352728 0.00001
NM_003560.4(PLA2G6):c.1225G>A (p.Val409Met) rs375131619 0.00001
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn) rs375874092 0.00001
NM_003560.4(PLA2G6):c.1465A>G (p.Lys489Glu) rs1326907784 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.1589A>G (p.His530Arg) rs2087618064 0.00001
NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val) rs1163553928 0.00001
NM_003560.4(PLA2G6):c.1999G>A (p.Glu667Lys) rs762928103 0.00001
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) rs2087135251 0.00001
NM_003560.4(PLA2G6):c.211C>T (p.Leu71Phe) rs1172782797 0.00001
NM_003560.4(PLA2G6):c.2132C>G (p.Pro711Arg) rs199784053 0.00001
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser) rs563222818 0.00001
NM_003560.4(PLA2G6):c.2257G>T (p.Val753Phe) rs1289082887 0.00001
NM_003560.4(PLA2G6):c.2297C>T (p.Thr766Met) rs201208246 0.00001
NM_003560.4(PLA2G6):c.2339A>G (p.Asn780Ser) rs1171614044 0.00001
NM_003560.4(PLA2G6):c.2369A>G (p.Tyr790Cys) rs149605475 0.00001
NM_003560.4(PLA2G6):c.2377C>T (p.Arg793Cys) rs766818779 0.00001
NM_003560.4(PLA2G6):c.29C>T (p.Thr10Ile) rs1323819447 0.00001
NM_003560.4(PLA2G6):c.415C>T (p.Arg139Cys) rs369811878 0.00001
NM_003560.4(PLA2G6):c.554A>G (p.Lys185Arg) rs746116318 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_003560.4(PLA2G6):c.712G>A (p.Val238Met) rs781706286 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NM_003560.4(PLA2G6):c.868C>T (p.Pro290Ser) rs754964607 0.00001
NM_003560.4(PLA2G6):c.916C>T (p.Arg306Trp) rs1301929071 0.00001
NM_003560.4(PLA2G6):c.977T>C (p.Met326Thr) rs1364503444 0.00001
NC_000022.10:g.(?_38508168)_(38509681_?)dup
NC_000022.11:g.38169211CACC[3]
NM_003560.4(PLA2G6):c.1027G>C (p.Ala343Pro)
NM_003560.4(PLA2G6):c.1028C>T (p.Ala343Val)
NM_003560.4(PLA2G6):c.1037G>A (p.Arg346His)
NM_003560.4(PLA2G6):c.104G>A (p.Ser35Asn)
NM_003560.4(PLA2G6):c.1076C>T (p.Ser359Leu)
NM_003560.4(PLA2G6):c.110G>A (p.Arg37Gln)
NM_003560.4(PLA2G6):c.1133C>A (p.Thr378Asn)
NM_003560.4(PLA2G6):c.1135C>G (p.Pro379Ala) rs2145753525
NM_003560.4(PLA2G6):c.1157C>G (p.Pro386Arg) rs2145753418
NM_003560.4(PLA2G6):c.1168G>A (p.Ala390Thr)
NM_003560.4(PLA2G6):c.1186+3A>G
NM_003560.4(PLA2G6):c.1205T>C (p.Ile402Thr)
NM_003560.4(PLA2G6):c.1247C>T (p.Pro416Leu)
NM_003560.4(PLA2G6):c.1265C>T (p.Pro422Leu)
NM_003560.4(PLA2G6):c.1358A>T (p.Asp453Val) rs1012889381
NM_003560.4(PLA2G6):c.1390G>C (p.Ala464Pro) rs2145737973
NM_003560.4(PLA2G6):c.1400T>C (p.Leu467Pro)
NM_003560.4(PLA2G6):c.1417G>C (p.Glu473Gln)
NM_003560.4(PLA2G6):c.1422G>T (p.Lys474Asn)
NM_003560.4(PLA2G6):c.1428C>A (p.Thr476=)
NM_003560.4(PLA2G6):c.1435C>T (p.His479Tyr) rs1235695530
NM_003560.4(PLA2G6):c.1448T>C (p.Leu483Pro) rs2087628215
NM_003560.4(PLA2G6):c.1454GAG[2] (p.Gly487del)
NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1512G>A (p.Ser504=)
NM_003560.4(PLA2G6):c.1514G>A (p.Gly505Asp) rs1183054597
NM_003560.4(PLA2G6):c.1516G>A (p.Val506Met) rs1602096779
NM_003560.4(PLA2G6):c.1523C>T (p.Thr508Ile)
NM_003560.4(PLA2G6):c.154A>G (p.Asn52Asp)
NM_003560.4(PLA2G6):c.1556G>C (p.Ser519Thr) rs2145721790
NM_003560.4(PLA2G6):c.1586T>C (p.Leu529Pro) rs2145721662
NM_003560.4(PLA2G6):c.158G>A (p.Arg53His)
NM_003560.4(PLA2G6):c.1601T>A (p.Met534Lys) rs1380137702
NM_003560.4(PLA2G6):c.1609A>T (p.Met537Leu) rs2145711594
NM_003560.4(PLA2G6):c.1620G>A (p.Met540Ile) rs527807604
NM_003560.4(PLA2G6):c.1628G>A (p.Arg543His)
NM_003560.4(PLA2G6):c.1628G>C (p.Arg543Pro)
NM_003560.4(PLA2G6):c.1642G>A (p.Val548Met)
NM_003560.4(PLA2G6):c.1675C>T (p.Pro559Ser)
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly) rs751508677
NM_003560.4(PLA2G6):c.1689C>G (p.Phe563Leu) rs146415291
NM_003560.4(PLA2G6):c.1696C>G (p.Arg566Gly)
NM_003560.4(PLA2G6):c.1708G>A (p.Glu570Lys) rs2145710936
NM_003560.4(PLA2G6):c.1709A>G (p.Glu570Gly) rs2145710922
NM_003560.4(PLA2G6):c.1729G>T (p.Val577Phe)
NM_003560.4(PLA2G6):c.1732A>G (p.Arg578Gly)
NM_003560.4(PLA2G6):c.1747A>T (p.Met583Leu)
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) rs2087181118
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) rs1555979298
NM_003560.4(PLA2G6):c.17G>A (p.Arg6His)
NM_003560.4(PLA2G6):c.17G>T (p.Arg6Leu)
NM_003560.4(PLA2G6):c.1826G>A (p.Arg609Gln)
NM_003560.4(PLA2G6):c.1834C>T (p.Arg612Cys)
NM_003560.4(PLA2G6):c.1835G>A (p.Arg612His) rs200117092
NM_003560.4(PLA2G6):c.1888G>T (p.Val630Leu) rs1375695546
NM_003560.4(PLA2G6):c.1895G>A (p.Arg632Gln)
NM_003560.4(PLA2G6):c.1903C>G (p.Arg635Gly)
NM_003560.4(PLA2G6):c.1932C>G (p.Phe644Leu) rs1569243550
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.1985T>C (p.Leu662Pro) rs1555978145
NM_003560.4(PLA2G6):c.2030G>A (p.Arg677His) rs369038599
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.2035-55G>A rs572529162
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser) rs886057501
NM_003560.4(PLA2G6):c.209+4G>A rs2145929293
NM_003560.4(PLA2G6):c.2091G>C (p.Arg697Ser)
NM_003560.4(PLA2G6):c.2092T>G (p.Ser698Ala) rs2145671820
NM_003560.4(PLA2G6):c.20T>G (p.Leu7Arg)
NM_003560.4(PLA2G6):c.2101G>A (p.Val701Met)
NM_003560.4(PLA2G6):c.2101G>T (p.Val701Leu)
NM_003560.4(PLA2G6):c.2105C>G (p.Pro702Arg) rs375566643
NM_003560.4(PLA2G6):c.2170G>A (p.Ala724Thr)
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.221T>C (p.Leu74Pro)
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg) rs1569239288
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.2306T>C (p.Met769Thr)
NM_003560.4(PLA2G6):c.2316G>T (p.Glu772Asp)
NM_003560.4(PLA2G6):c.2326A>G (p.Thr776Ala)
NM_003560.4(PLA2G6):c.2335G>T (p.Val779Phe) rs1394402504
NM_003560.4(PLA2G6):c.2358G>T (p.Glu786Asp)
NM_003560.4(PLA2G6):c.260A>C (p.Tyr87Ser) rs2145831024
NM_003560.4(PLA2G6):c.266C>T (p.Ser89Phe) rs142715413
NM_003560.4(PLA2G6):c.311C>A (p.Thr104Asn)
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys) rs995653548
NM_003560.4(PLA2G6):c.355A>C (p.Ser119Arg) rs747331639
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala) rs1602184043
NM_003560.4(PLA2G6):c.397G>A (p.Glu133Lys)
NM_003560.4(PLA2G6):c.407A>G (p.His136Arg)
NM_003560.4(PLA2G6):c.40G>A (p.Val14Ile)
NM_003560.4(PLA2G6):c.412A>G (p.Ser138Gly) rs1350282681
NM_003560.4(PLA2G6):c.419TCA[1] (p.Ile141del)
NM_003560.4(PLA2G6):c.428G>A (p.Cys143Tyr)
NM_003560.4(PLA2G6):c.431C>G (p.Ala144Gly)
NM_003560.4(PLA2G6):c.434A>G (p.Asn145Ser)
NM_003560.4(PLA2G6):c.455G>T (p.Gly152Val) rs1252028585
NM_003560.4(PLA2G6):c.471C>G (p.His157Gln)
NM_003560.4(PLA2G6):c.479G>C (p.Cys160Ser)
NM_003560.4(PLA2G6):c.482G>A (p.Arg161His) rs759276503
NM_003560.4(PLA2G6):c.490G>C (p.Asp164His) rs2089026871
NM_003560.4(PLA2G6):c.524G>A (p.Cys175Tyr) rs2145818936
NM_003560.4(PLA2G6):c.534G>C (p.Gln178His)
NM_003560.4(PLA2G6):c.565G>A (p.Val189Ile)
NM_003560.4(PLA2G6):c.609G>A (p.Gln203=)
NM_003560.4(PLA2G6):c.647T>G (p.Val216Gly)
NM_003560.4(PLA2G6):c.733C>G (p.Arg245Gly)
NM_003560.4(PLA2G6):c.733C>T (p.Arg245Trp)
NM_003560.4(PLA2G6):c.746T>C (p.Met249Thr)
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.758G>T (p.Gly253Val) rs927534605
NM_003560.4(PLA2G6):c.75G>T (p.Lys25Asn)
NM_003560.4(PLA2G6):c.76G>A (p.Glu26Lys)
NM_003560.4(PLA2G6):c.788C>G (p.Ser263Cys) rs2088801084
NM_003560.4(PLA2G6):c.796G>A (p.Gly266Arg)
NM_003560.4(PLA2G6):c.798-3C>T rs961699742
NM_003560.4(PLA2G6):c.809T>C (p.Met270Thr)
NM_003560.4(PLA2G6):c.812T>C (p.Ile271Thr) rs1602142894
NM_003560.4(PLA2G6):c.826A>C (p.Ser276Arg) rs2088466825
NM_003560.4(PLA2G6):c.853C>T (p.Arg285Cys)
NM_003560.4(PLA2G6):c.868C>G (p.Pro290Ala) rs754964607
NM_003560.4(PLA2G6):c.880G>C (p.Ala294Pro)
NM_003560.4(PLA2G6):c.895A>G (p.Met299Val)
NM_003560.4(PLA2G6):c.901C>G (p.Arg301Gly)
NM_003560.4(PLA2G6):c.911T>C (p.Leu304Pro)
NM_003560.4(PLA2G6):c.917G>A (p.Arg306Gln)
NM_003560.4(PLA2G6):c.927C>G (p.Asn309Lys) rs770332365
NM_003560.4(PLA2G6):c.953A>G (p.Asn318Ser)
NM_003560.4(PLA2G6):c.954C>G (p.Asn318Lys)
NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)
NM_003560.4(PLA2G6):c.979C>T (p.Arg327Cys)
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023

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