ClinVar Miner

List of variants in gene ELAC2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_018127.6(ELAC2):c.-381A>G rs2051974 0.70622
NM_018127.7(ELAC2):c.*206C>T rs1044569 0.57710
NM_018127.7(ELAC2):c.*320G>A rs2523 0.56964
NM_018127.7(ELAC2):c.*151C>G rs1044564 0.56298
NM_018127.7(ELAC2):c.2254-191G>A rs9908102 0.55172
NM_018127.6(ELAC2):c.-408C>T rs2051973 0.51780
NM_018127.7(ELAC2):c.2109-145T>G rs9915058 0.51544
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_018127.7(ELAC2):c.433-241G>A rs733890 0.29579
NM_018127.7(ELAC2):c.1080-326T>C rs58842254 0.28406
NM_018127.7(ELAC2):c.739-208C>T rs111859801 0.28104
NM_018127.7(ELAC2):c.679+185C>G rs73300518 0.27910
NM_018127.7(ELAC2):c.490+277T>C rs7211501 0.27756
NM_018127.7(ELAC2):c.679+60T>C rs41494747 0.27742
NM_018127.7(ELAC2):c.433-305T>C rs733889 0.27728
NM_018127.7(ELAC2):c.679+146T>G rs73981622 0.27713
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_018127.7(ELAC2):c.984-204C>G rs58578352 0.27005
NM_018127.7(ELAC2):c.1423+239C>T rs55787925 0.26969
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_018127.7(ELAC2):c.871-316A>T rs4792310 0.26960
NM_018127.7(ELAC2):c.1423+308C>T rs55986816 0.26951
NM_018127.7(ELAC2):c.1305-337G>A rs73981608 0.26901
NM_018127.7(ELAC2):c.1808+233G>C rs2286340 0.26491
NM_018127.7(ELAC2):c.433-296T>C rs4792312 0.19098
NC_000017.11:g.13018395G>C rs17554679 0.10755
NM_018127.7(ELAC2):c.680-36A>G rs2302069 0.10233
NM_018127.7(ELAC2):c.490+206G>A rs138536836 0.09206
NM_018127.7(ELAC2):c.491-253del rs61296396 0.08989
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_018127.7(ELAC2):c.433-43C>T rs56004910 0.08523
NM_018127.7(ELAC2):c.983+59A>T rs17639379 0.08522
NM_018127.7(ELAC2):c.491-170T>G rs76738579 0.08521
NM_018127.7(ELAC2):c.559+136G>A rs74886662 0.08519
NM_018127.7(ELAC2):c.2253+171C>G rs74937316 0.08518
NM_018127.7(ELAC2):c.2108+73G>A rs56329828 0.08506
NM_018127.7(ELAC2):c.2254-211G>A rs76491525 0.08503
NM_018127.7(ELAC2):c.984-132C>T rs77703211 0.08503
NM_018127.7(ELAC2):c.738+241G>A rs138505842 0.08498
NM_018127.7(ELAC2):c.1305-225G>A rs75426043 0.08496
NM_018127.7(ELAC2):c.1520+41C>T rs56405144 0.08486
NM_018127.7(ELAC2):c.432+105C>T rs10521207 0.04805
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
NM_018127.7(ELAC2):c.560-293G>A rs72815149 0.03092
NM_018127.7(ELAC2):c.1079+91C>T rs78515379 0.02889
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NC_000017.11:g.13018405G>A rs76048435 0.01330
NM_018127.6(ELAC2):c.-318C>G rs138603577 0.01297
NM_018127.7(ELAC2):c.1080-177C>T rs112316688 0.01256
NM_018127.7(ELAC2):c.1809-150T>C rs114943735 0.01172
NM_018127.7(ELAC2):c.739-275G>A rs138792410 0.01123
NM_018127.7(ELAC2):c.491-53_491-37dup rs145104704 0.01083
NM_018127.7(ELAC2):c.2109-201C>G rs191620212 0.00950
NM_018127.7(ELAC2):c.1080-257A>G rs191514016 0.00925
NM_018127.7(ELAC2):c.1423+116T>C rs186442231 0.00923
NM_018127.7(ELAC2):c.1659+258A>G rs115284637 0.00879
NM_018127.7(ELAC2):c.984-286T>A rs75158277 0.00821
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_018127.7(ELAC2):c.984-192G>A rs186644441 0.00643
NM_018127.7(ELAC2):c.-66G>C rs7223706 0.00581
NM_018127.7(ELAC2):c.1218+27G>A rs73298512 0.00573
NM_018127.7(ELAC2):c.680-169G>A rs58859715 0.00571
NM_018127.7(ELAC2):c.1304+212C>T rs74741242 0.00563
NM_018127.7(ELAC2):c.679+236G>A rs75086383 0.00549
NM_018127.7(ELAC2):c.245+238C>T rs2286335 0.00528
NM_018127.7(ELAC2):c.984-294C>T rs116410221 0.00524
NM_018127.7(ELAC2):c.1423+152T>C rs118141505 0.00515
NM_018127.7(ELAC2):c.1660-263A>G rs142055794 0.00457
NM_018127.7(ELAC2):c.1423+208G>A rs144188383 0.00414
NM_018127.7(ELAC2):c.559+61G>A rs61277685 0.00414
NM_018127.7(ELAC2):c.2254-36C>G rs73978302 0.00408
NM_018127.7(ELAC2):c.1659+116T>G rs73981606 0.00406
NM_018127.7(ELAC2):c.2253+317G>A rs73981603 0.00406
NM_018127.7(ELAC2):c.1423+167G>T rs115608182 0.00405
NM_018127.7(ELAC2):c.1080-276G>A rs149590221 0.00375
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_018127.7(ELAC2):c.*33G>T rs200771997 0.00213
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_018127.7(ELAC2):c.2376G>A (p.Ala792=) rs180717697 0.00034
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=) rs140487151 0.00028
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
NM_018127.7(ELAC2):c.195G>A (p.Ala65=) rs377291764 0.00019
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_018127.7(ELAC2):c.291G>A (p.Glu97=) rs748123262 0.00014
NM_018127.7(ELAC2):c.-19T>C rs757625951 0.00013
NM_018127.7(ELAC2):c.2253+29C>T rs201647277 0.00011
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.98G>T (p.Arg33Leu) rs771550822 0.00006
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) rs777147755 0.00005
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.1042G>A (p.Val348Met) rs370476174 0.00003
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp) rs767611235 0.00002
NM_018127.7(ELAC2):c.491-31A>G rs375394405 0.00002
NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp) rs757575765 0.00001
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.118C>T (p.Leu40=) rs983405562 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys) rs775958815 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018127.7(ELAC2):c.2109-6C>T rs1372118798 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.271G>A (p.Val91Ile) rs750042259 0.00001
NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser) rs775086832 0.00001
NM_018127.7(ELAC2):c.631C>T (p.Arg211Ter) rs761881815 0.00001
NM_018127.7(ELAC2):c.677A>G (p.His226Arg) rs757735135 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.983+15C>G rs200937200 0.00001
NC_000017.11:g.13018031G>C rs4792315
NM_018127.7(ELAC2):c.*280T>A rs6949
NM_018127.7(ELAC2):c.-30G>A rs549348414
NM_018127.7(ELAC2):c.-69_-46dup rs1064795330
NM_018127.7(ELAC2):c.1079+72G>C rs59429173
NM_018127.7(ELAC2):c.1080-236del rs137953448
NM_018127.7(ELAC2):c.1304+65del rs56341811
NM_018127.7(ELAC2):c.1305-12_1305-11insCTCT rs2143591454
NM_018127.7(ELAC2):c.1305-16CT[6] rs1555574374
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1424-284C>A rs80003444
NM_018127.7(ELAC2):c.1478C>T (p.Pro493Leu)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1520+182dup rs11443554
NM_018127.7(ELAC2):c.1521-258del rs57024446
NM_018127.7(ELAC2):c.1521-259_1521-258del rs57024446
NM_018127.7(ELAC2):c.1521-274dup rs57024446
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1659+138T>C rs4792308
NM_018127.7(ELAC2):c.1731G>C (p.Leu577=) rs772768599
NM_018127.7(ELAC2):c.1808+229T>C rs80068662
NM_018127.7(ELAC2):c.1808+26G>C rs2286338
NM_018127.7(ELAC2):c.1809-252C>T rs73981605
NM_018127.7(ELAC2):c.1809-75G>T rs73981604
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.2108+54G>C rs145824949
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.225C>T (p.Tyr75=) rs766731755
NM_018127.7(ELAC2):c.246-89del rs932378885
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.367+116del rs879009279
NM_018127.7(ELAC2):c.367+117G>T rs1322267627
NM_018127.7(ELAC2):c.367+95dup rs879009279
NM_018127.7(ELAC2):c.559+168A>T rs115388422
NM_018127.7(ELAC2):c.679+148G>A rs73981621
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018127.7(ELAC2):c.870+21_870+23dup rs3217019
NM_018127.7(ELAC2):c.871-188_871-183del rs10532461
NM_018127.7(ELAC2):c.894TCC[1] (p.Pro300del) rs1064796732
NM_018127.7(ELAC2):c.983+102A>G rs4792309
NM_018127.7(ELAC2):c.984-237T>C rs58700278
NM_018127.7(ELAC2):c.984-237T>G rs58700278

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