ClinVar Miner

List of variants in gene PLA2G6 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.609+290A>G rs2076112 0.56141
NM_003560.4(PLA2G6):c.609+71A>G rs4375 0.48503
NM_003560.4(PLA2G6):c.426-309T>C rs2016755 0.48448
NM_003560.4(PLA2G6):c.425+179A>G rs1005529 0.45235
NM_003560.4(PLA2G6):c.1592-286A>G rs2076115 0.41583
NM_003560.4(PLA2G6):c.210-276C>T rs4821748 0.33489
NM_003560.4(PLA2G6):c.1743-184C>T rs11089863 0.32517
NM_003560.4(PLA2G6):c.797+43C>T rs12329956 0.29793
NM_003560.4(PLA2G6):c.609+256A>G rs4821747 0.28039
NM_003560.4(PLA2G6):c.1186+314C>T rs8135333 0.17115
NM_003560.4(PLA2G6):c.1428-248A>G rs2076117 0.11298
NM_003560.4(PLA2G6):c.610-292A>G rs11570660 0.09085
NM_003560.4(PLA2G6):c.894+39C>T rs2272831 0.09040
NM_003560.4(PLA2G6):c.895-120C>T rs11570678 0.08161
NM_003560.4(PLA2G6):c.609+53G>A rs11089868 0.08125
NM_003560.4(PLA2G6):c.609+200G>A rs2076113 0.07585
NM_003560.4(PLA2G6):c.1428-70T>C rs2072867 0.07438
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_003560.4(PLA2G6):c.1743-26C>T rs11570751 0.06810
NM_003560.4(PLA2G6):c.2202+55G>A rs2076114 0.06186
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) rs2413502 0.05955
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) rs11570679 0.05937
NM_003560.4(PLA2G6):c.1186+322A>G rs736129 0.05916
NM_003560.4(PLA2G6):c.609+28G>T rs11570647 0.05910
NM_003560.4(PLA2G6):c.797+35C>T rs6001017 0.05877
NM_003560.4(PLA2G6):c.-45-52G>A rs11570603 0.04986
NM_003560.4(PLA2G6):c.610-307G>C rs11570659 0.04843
NM_003560.4(PLA2G6):c.798-96C>T rs11570666 0.02582
NM_003560.4(PLA2G6):c.1077+115T>A rs11570681 0.02577
NM_003560.4(PLA2G6):c.894+80C>T rs11570668 0.02576
NM_003560.4(PLA2G6):c.209+167C>T rs11570608 0.02295
NM_003560.4(PLA2G6):c.1591+305C>A rs11570733 0.02224
NM_003560.4(PLA2G6):c.2203-144C>T rs11570762 0.02221
NM_003560.4(PLA2G6):c.210-93G>A rs11570631 0.02141
NM_003560.4(PLA2G6):c.1349-93C>T rs11570707 0.02070
NM_003560.4(PLA2G6):c.1348+101C>T rs11570701 0.02055
NM_003560.4(PLA2G6):c.1348+93G>A rs11570700 0.01555
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_003560.4(PLA2G6):c.2277-67T>C rs11570766 0.01375
NM_003560.4(PLA2G6):c.-45-146C>T rs11570602 0.01013
NM_003560.4(PLA2G6):c.1743-137G>A rs55679135 0.00993
NM_003560.4(PLA2G6):c.426-141T>G rs117600608 0.00923
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_003560.4(PLA2G6):c.894+47G>A rs11570667 0.00858
NM_003560.4(PLA2G6):c.2203-269T>G rs11570760 0.00733
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_003560.4(PLA2G6):c.2203-201C>T rs11570761 0.00575
NM_003560.4(PLA2G6):c.2203-95C>G rs115102839 0.00575
NM_003560.4(PLA2G6):c.609+27T>C rs148500718 0.00385
NM_003560.4(PLA2G6):c.187A>G (p.Arg63Gly) rs11570606 0.00379
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_003560.4(PLA2G6):c.2202+286C>T rs111624359 0.00343
NM_003560.4(PLA2G6):c.*230C>G rs113638685 0.00342
NM_003560.4(PLA2G6):c.*81G>T rs112920700 0.00342
NM_003560.4(PLA2G6):c.1428-237C>A rs145670543 0.00313
NM_003560.4(PLA2G6):c.1348+92C>T rs188536071 0.00285
NM_003560.4(PLA2G6):c.1348+48C>T rs145285394 0.00277
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_003560.4(PLA2G6):c.1742+23C>T rs115219514 0.00244
NM_003560.4(PLA2G6):c.894+40G>A rs147915418 0.00189
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=) rs146241431 0.00167
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_003560.4(PLA2G6):c.1428-8C>T rs370288820 0.00058
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln) rs139184008 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
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.1835G>T (p.Arg612Leu) rs200117092 0.00018
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_003560.4(PLA2G6):c.171C>T (p.Cys57=) rs150718378 0.00016
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=) rs185396488 0.00016
NM_003560.4(PLA2G6):c.1665C>T (p.Tyr555=) rs770478201 0.00014
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.1724C>T (p.Thr575Met) rs144012369 0.00011
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=) rs368631309 0.00011
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
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.1742+12C>T rs11570739 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.26A>G (p.Asn9Ser) rs149163431 0.00008
NM_003560.4(PLA2G6):c.756C>T (p.Asn252=) rs771809118 0.00008
NM_003560.4(PLA2G6):c.1268C>T (p.Ala423Val) rs199636953 0.00007
NM_003560.4(PLA2G6):c.2203-45G>A rs538664051 0.00007
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.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
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.1956C>T (p.Asp652=) rs779376537 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 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.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003560.4(PLA2G6):c.1116C>T (p.Phe372=) rs538112875 0.00003
NM_003560.4(PLA2G6):c.1548G>A (p.Ala516=) rs1031583350 0.00003
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys) rs777548266 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn) rs764199136 0.00002
NM_003560.4(PLA2G6):c.1416C>T (p.Asp472=) rs199714835 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2202+4A>G rs757339823 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 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
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_003560.4(PLA2G6):c.-45-13C>A rs979358081 0.00001
NM_003560.4(PLA2G6):c.1063C>T (p.His355Tyr) rs777460339 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1423C>T (p.Arg475Trp) rs755845373 0.00001
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro) rs1356679312 0.00001
NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr) rs587784334 0.00001
NM_003560.4(PLA2G6):c.1591+5G>C rs1064796469 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1743-11T>C rs1175259651 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) rs886039552 0.00001
NM_003560.4(PLA2G6):c.2377C>T (p.Arg793Cys) rs766818779 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.2410C>T (p.Leu804Phe) rs868205860 0.00001
NM_003560.4(PLA2G6):c.2416C>T (p.Pro806Ser) rs745664459 0.00001
NM_003560.4(PLA2G6):c.27T>C (p.Asn9=) rs768123663 0.00001
NM_003560.4(PLA2G6):c.336C>A (p.Asp112Glu) rs2089196174 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NM_003560.4(PLA2G6):c.882C>T (p.Ala294=) rs912829352 0.00001
NM_003560.4(PLA2G6):c.977T>C (p.Met326Thr) rs1364503444 0.00001
NC_000022.10:g.38511626C>T rs794729212
NM_003560.4(PLA2G6):c.*148C>T rs140687415
NM_003560.4(PLA2G6):c.*183_*187del rs139718702
NM_003560.4(PLA2G6):c.-45-226G>A rs132989
NM_003560.4(PLA2G6):c.1028C>A (p.Ala343Glu) rs1162944680
NM_003560.4(PLA2G6):c.1180G>A (p.Gly394Ser)
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1186+1G>T
NM_003560.4(PLA2G6):c.1348+127C>G rs9622732
NM_003560.4(PLA2G6):c.1462G>A (p.Val488Met) rs2087627297
NM_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys) rs587784332
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1556G>C (p.Ser519Thr) rs2145721790
NM_003560.4(PLA2G6):c.1591+131_1591+140del rs11570732
NM_003560.4(PLA2G6):c.1591+276G>A rs534654093
NM_003560.4(PLA2G6):c.1592-206G>T rs140582878
NM_003560.4(PLA2G6):c.1604C>A (p.Ala535Asp)
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003560.4(PLA2G6):c.1648del (p.Arg550fs)
NM_003560.4(PLA2G6):c.1664A>G (p.Tyr555Cys)
NM_003560.4(PLA2G6):c.1742+253GGCTCTGCCCTGCC[3] rs11570742
NM_003560.4(PLA2G6):c.1756G>A (p.Gly586Arg)
NM_003560.4(PLA2G6):c.1888G>T (p.Val630Leu) rs1375695546
NM_003560.4(PLA2G6):c.1896_1897dup (p.Ala633fs)
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1915del (p.Ala639fs)
NM_003560.4(PLA2G6):c.1951del (p.Leu651fs) rs2145682767
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) rs547175863
NM_003560.4(PLA2G6):c.1988A>T (p.Asp663Val) rs2087137622
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.2174A>G (p.Lys725Arg) rs368468197
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter) rs1556032708
NM_003560.4(PLA2G6):c.2202+1G>A rs2145671289
NM_003560.4(PLA2G6):c.2203-161del rs558546898
NM_003560.4(PLA2G6):c.2203-41G>C rs11570763
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2276+1G>A rs1397030516
NM_003560.4(PLA2G6):c.2276+43G>A rs11570764
NM_003560.4(PLA2G6):c.2276+43G>C rs11570764
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro) rs893021938
NM_003560.4(PLA2G6):c.268C>G (p.Gln90Glu)
NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter) rs1416924105
NM_003560.4(PLA2G6):c.404T>C (p.Phe135Ser) rs1057521104
NM_003560.4(PLA2G6):c.470A>C (p.His157Pro) rs1064795344
NM_003560.4(PLA2G6):c.557G>A (p.Gly186Glu)
NM_003560.4(PLA2G6):c.635G>A (p.Gly212Asp) rs2145803961
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.710G>A (p.Arg237His)
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.797+235_797+236del rs201599183
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala) rs764286950
NM_003560.4(PLA2G6):c.894+243C>A rs10483197
NM_003560.4(PLA2G6):c.927C>G (p.Asn309Lys) rs770332365
NM_003560.4(PLA2G6):c.95A>G (p.Tyr32Cys)
NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)
NM_003560.4(PLA2G6):c.990C>A (p.Phe330Leu) rs146241431
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023

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