ClinVar Miner

List of variants reported as likely benign for combined oxidative phosphorylation defect type 17 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.159C>T (p.Gly53=) rs200251607 0.00045
NM_018127.7(ELAC2):c.1218+16G>A rs201351764 0.00044
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.1740C>T (p.Ala580=) rs148050183 0.00027
NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp) rs200149324 0.00026
NM_018127.7(ELAC2):c.367+7A>G rs113628680 0.00025
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.739-18A>G rs376224310 0.00019
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe) rs140665334 0.00016
NM_018127.7(ELAC2):c.1304+13T>C rs777881145 0.00015
NM_018127.7(ELAC2):c.1080-8C>A rs201721293 0.00014
NM_018127.7(ELAC2):c.1458T>C (p.Leu486=) rs150347734 0.00014
NM_018127.7(ELAC2):c.291G>A (p.Glu97=) rs748123262 0.00014
NM_018127.7(ELAC2):c.600A>G (p.Pro200=) rs142521572 0.00014
NM_018127.7(ELAC2):c.351T>C (p.Asn117=) rs146877290 0.00011
NM_018127.7(ELAC2):c.1423+13C>T rs552514338 0.00010
NM_018127.7(ELAC2):c.156C>T (p.Ser52=) rs375941310 0.00009
NM_018127.7(ELAC2):c.1304+15G>C rs373732738 0.00008
NM_018127.7(ELAC2):c.489G>A (p.Leu163=) rs767752385 0.00008
NM_018127.7(ELAC2):c.834C>T (p.Val278=) rs138869157 0.00008
NM_018127.7(ELAC2):c.666A>G (p.Pro222=) rs772199691 0.00007
NM_018127.7(ELAC2):c.1350G>A (p.Ala450=) rs375565327 0.00006
NM_018127.7(ELAC2):c.1880C>T (p.Ser627Leu) rs78105154 0.00006
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.700G>A (p.Val234Ile) rs142803912 0.00006
NM_018127.7(ELAC2):c.840C>T (p.Asp280=) rs369092504 0.00006
NM_018127.7(ELAC2):c.2319C>T (p.Gly773=) rs550032568 0.00005
NM_018127.7(ELAC2):c.2403C>T (p.Gly801=) rs777147755 0.00005
NM_018127.7(ELAC2):c.715C>T (p.Leu239=) rs377338076 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.1424-17C>T rs755064409 0.00004
NM_018127.7(ELAC2):c.1554G>A (p.Glu518=) rs377407616 0.00004
NM_018127.7(ELAC2):c.1992C>T (p.Ser664=) rs746289536 0.00004
NM_018127.7(ELAC2):c.2109-9C>T rs770917844 0.00004
NM_018127.7(ELAC2):c.240C>T (p.Phe80=) rs764484752 0.00004
NM_018127.7(ELAC2):c.2457G>A (p.Gln819=) rs773456696 0.00004
NM_018127.7(ELAC2):c.296+9G>A rs1472556568 0.00004
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.387G>A (p.Lys129=) rs367828554 0.00004
NM_018127.7(ELAC2):c.871-20G>A rs766710377 0.00004
NM_018127.7(ELAC2):c.1079+13G>C rs200797227 0.00003
NM_018127.7(ELAC2):c.1423+8G>A rs763673924 0.00003
NM_018127.7(ELAC2):c.1584C>T (p.Tyr528=) rs772070282 0.00003
NM_018127.7(ELAC2):c.1659+13del rs753964584 0.00003
NM_018127.7(ELAC2):c.1660-5G>A rs931276557 0.00003
NM_018127.7(ELAC2):c.1701A>G (p.Ala567=) rs898456068 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2115G>A (p.Thr705=) rs755866051 0.00003
NM_018127.7(ELAC2):c.2169C>T (p.Asn723=) rs781475188 0.00003
NM_018127.7(ELAC2):c.2220C>T (p.Ser740=) rs140626107 0.00003
NM_018127.7(ELAC2):c.222C>G (p.Leu74=) rs373242425 0.00003
NM_018127.7(ELAC2):c.559+17G>C rs765765916 0.00003
NM_018127.7(ELAC2):c.871-17C>T rs373231098 0.00003
NM_018127.7(ELAC2):c.983+10G>A rs552626383 0.00003
NM_018127.7(ELAC2):c.1008C>T (p.Pro336=) rs769647706 0.00002
NM_018127.7(ELAC2):c.1080-20C>T rs371507910 0.00002
NM_018127.7(ELAC2):c.120G>T (p.Leu40=) rs368781017 0.00002
NM_018127.7(ELAC2):c.144G>A (p.Pro48=) rs1231034298 0.00002
NM_018127.7(ELAC2):c.1617G>C (p.Leu539=) rs539598982 0.00002
NM_018127.7(ELAC2):c.1743C>T (p.Pro581=) rs1838655732 0.00002
NM_018127.7(ELAC2):c.1956G>A (p.Ala652=) rs776752737 0.00002
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.2226A>G (p.Lys742=) rs773995732 0.00002
NM_018127.7(ELAC2):c.2418G>C (p.Gly806=) rs144228112 0.00002
NM_018127.7(ELAC2):c.245+19C>A rs1037457378 0.00002
NM_018127.7(ELAC2):c.393C>T (p.Thr131=) rs747138055 0.00002
NM_018127.7(ELAC2):c.39A>T (p.Gly13=) rs906248515 0.00002
NM_018127.7(ELAC2):c.797+9G>T rs762820869 0.00002
NM_018127.7(ELAC2):c.798-13C>G rs371733501 0.00002
NM_018127.7(ELAC2):c.983+14T>A rs758970515 0.00002
NM_018127.7(ELAC2):c.1080-12G>A rs1447133657 0.00001
NM_018127.7(ELAC2):c.1080-17G>C rs772301440 0.00001
NM_018127.7(ELAC2):c.1080-19C>T rs763737021 0.00001
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.1218+20C>T rs1367660839 0.00001
NM_018127.7(ELAC2):c.1227C>T (p.Gly409=) rs138100769 0.00001
NM_018127.7(ELAC2):c.1257T>G (p.Gly419=) rs2040855188 0.00001
NM_018127.7(ELAC2):c.127C>A (p.Arg43=) rs1598280966 0.00001
NM_018127.7(ELAC2):c.1305-10C>T rs771858858 0.00001
NM_018127.7(ELAC2):c.132G>A (p.Glu44=) rs933215096 0.00001
NM_018127.7(ELAC2):c.1476C>T (p.Ile492=) rs766476173 0.00001
NM_018127.7(ELAC2):c.1524C>T (p.Pro508=) rs746298894 0.00001
NM_018127.7(ELAC2):c.1530G>A (p.Thr510=) rs202041978 0.00001
NM_018127.7(ELAC2):c.1608G>A (p.Leu536=) rs773774169 0.00001
NM_018127.7(ELAC2):c.1680G>A (p.Leu560=) rs1204658530 0.00001
NM_018127.7(ELAC2):c.1686A>G (p.Arg562=) rs376766610 0.00001
NM_018127.7(ELAC2):c.1698+18T>G rs773809126 0.00001
NM_018127.7(ELAC2):c.1699-19C>G rs371530852 0.00001
NM_018127.7(ELAC2):c.1699-20A>G rs1489448575 0.00001
NM_018127.7(ELAC2):c.1722C>T (p.His574=) rs770617287 0.00001
NM_018127.7(ELAC2):c.178C>T (p.Leu60=) rs1266677255 0.00001
NM_018127.7(ELAC2):c.1808+15C>T rs930358086 0.00001
NM_018127.7(ELAC2):c.2007C>G (p.Pro669=) rs780790017 0.00001
NM_018127.7(ELAC2):c.2017C>T (p.Leu673=) rs200759780 0.00001
NM_018127.7(ELAC2):c.2030-6C>T rs548603402 0.00001
NM_018127.7(ELAC2):c.2076T>G (p.Gly692=) rs577239094 0.00001
NM_018127.7(ELAC2):c.2108+12C>T rs757853122 0.00001
NM_018127.7(ELAC2):c.2112A>G (p.Thr704=) rs998359804 0.00001
NM_018127.7(ELAC2):c.2118C>G (p.Ser706=) rs752923351 0.00001
NM_018127.7(ELAC2):c.2148C>T (p.Asn716=) rs759078534 0.00001
NM_018127.7(ELAC2):c.2254-11G>A rs553919919 0.00001
NM_018127.7(ELAC2):c.2254-5T>G rs922658791 0.00001
NM_018127.7(ELAC2):c.2254-8T>C rs186366777 0.00001
NM_018127.7(ELAC2):c.2295C>G (p.Pro765=) rs371543722 0.00001
NM_018127.7(ELAC2):c.22C>T (p.Leu8=) rs754652199 0.00001
NM_018127.7(ELAC2):c.2370G>A (p.Val790=) rs143840985 0.00001
NM_018127.7(ELAC2):c.245+17C>A rs754772263 0.00001
NM_018127.7(ELAC2):c.24G>A (p.Leu8=) rs1598281471 0.00001
NM_018127.7(ELAC2):c.297-4T>C rs376806455 0.00001
NM_018127.7(ELAC2):c.303G>A (p.Lys101=) rs777807535 0.00001
NM_018127.7(ELAC2):c.357G>A (p.Gly119=) rs376498988 0.00001
NM_018127.7(ELAC2):c.361T>C (p.Leu121=) rs200893345 0.00001
NM_018127.7(ELAC2):c.368-11A>G rs750133002 0.00001
NM_018127.7(ELAC2):c.432+15A>C rs754403836 0.00001
NM_018127.7(ELAC2):c.432+18C>T rs779908196 0.00001
NM_018127.7(ELAC2):c.433-5A>G rs373498430 0.00001
NM_018127.7(ELAC2):c.45C>T (p.Thr15=) rs551832115 0.00001
NM_018127.7(ELAC2):c.491-6T>C rs755040798 0.00001
NM_018127.7(ELAC2):c.495G>A (p.Val165=) rs751671002 0.00001
NM_018127.7(ELAC2):c.537A>C (p.Thr179=) rs755930395 0.00001
NM_018127.7(ELAC2):c.559+16A>G rs1449825249 0.00001
NM_018127.7(ELAC2):c.582C>T (p.His194=) rs764486912 0.00001
NM_018127.7(ELAC2):c.651G>A (p.Ser217=) rs201530031 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.69G>T (p.Ser23=) rs1299982871 0.00001
NM_018127.7(ELAC2):c.738+7A>C rs767269129 0.00001
NM_018127.7(ELAC2):c.738+9G>C rs188872129 0.00001
NM_018127.7(ELAC2):c.739-11C>T rs919712707 0.00001
NM_018127.7(ELAC2):c.984-18C>A rs1382193290 0.00001
NM_018127.7(ELAC2):c.1011G>T (p.Val337=)
NM_018127.7(ELAC2):c.1014C>T (p.Ala338=) rs2143613110
NM_018127.7(ELAC2):c.102G>A (p.Lys34=)
NM_018127.7(ELAC2):c.1038A>T (p.Ala346=)
NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)
NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=)
NM_018127.7(ELAC2):c.1079+20G>A
NM_018127.7(ELAC2):c.1080-16dup
NM_018127.7(ELAC2):c.1080-18G>A rs775647349
NM_018127.7(ELAC2):c.1080-19C>G
NM_018127.7(ELAC2):c.1080-20C>A
NM_018127.7(ELAC2):c.1080-5C>T
NM_018127.7(ELAC2):c.1098G>A (p.Gln366=)
NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)
NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)
NM_018127.7(ELAC2):c.117C>T (p.His39=)
NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)
NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)
NM_018127.7(ELAC2):c.1191C>T (p.Phe397=) rs1167915234
NM_018127.7(ELAC2):c.1200C>A (p.Leu400=)
NM_018127.7(ELAC2):c.120G>A (p.Leu40=) rs368781017
NM_018127.7(ELAC2):c.1212C>T (p.Arg404=) rs2143605832
NM_018127.7(ELAC2):c.1218+19C>T
NM_018127.7(ELAC2):c.1219-12T>C
NM_018127.7(ELAC2):c.1233C>T (p.Thr411=)
NM_018127.7(ELAC2):c.1242G>A (p.Val414=)
NM_018127.7(ELAC2):c.1266C>G (p.Leu422=) rs764718395
NM_018127.7(ELAC2):c.126G>C (p.Thr42=)
NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)
NM_018127.7(ELAC2):c.1278G>A (p.Gln426=) rs1360216860
NM_018127.7(ELAC2):c.12T>C (p.Leu4=)
NM_018127.7(ELAC2):c.1304+15G>A
NM_018127.7(ELAC2):c.1304+9C>T
NM_018127.7(ELAC2):c.1305-11_1305-8del
NM_018127.7(ELAC2):c.1305-12C>G
NM_018127.7(ELAC2):c.1305-12C>T rs779858810
NM_018127.7(ELAC2):c.1305-14C>T
NM_018127.7(ELAC2):c.1305-20G>A
NM_018127.7(ELAC2):c.1305-8_1305-7insTC
NM_018127.7(ELAC2):c.1323C>T (p.Cys441=)
NM_018127.7(ELAC2):c.1377C>T (p.Ser459=) rs1337946720
NM_018127.7(ELAC2):c.1401G>A (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1401G>T (p.Ala467=) rs146858023
NM_018127.7(ELAC2):c.1407C>T (p.Asp469=)
NM_018127.7(ELAC2):c.141A>G (p.Gly47=) rs1240011554
NM_018127.7(ELAC2):c.1423+11G>T
NM_018127.7(ELAC2):c.1423+19A>G
NM_018127.7(ELAC2):c.1423+9G>T
NM_018127.7(ELAC2):c.1424-12A>G
NM_018127.7(ELAC2):c.1424-5dup
NM_018127.7(ELAC2):c.1437G>A (p.Gln479=)
NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)
NM_018127.7(ELAC2):c.144G>T (p.Pro48=)
NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)
NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1520+7T>C
NM_018127.7(ELAC2):c.1520+9C>T
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>T (p.Thr520=)
NM_018127.7(ELAC2):c.156C>A (p.Ser52=)
NM_018127.7(ELAC2):c.159C>G (p.Gly53=)
NM_018127.7(ELAC2):c.1626G>A (p.Val542=)
NM_018127.7(ELAC2):c.162C>G (p.Gly54=) rs2143697041
NM_018127.7(ELAC2):c.1638C>T (p.His546=) rs1489337164
NM_018127.7(ELAC2):c.1641G>A (p.Leu547=) rs1598205310
NM_018127.7(ELAC2):c.1644C>T (p.His548=)
NM_018127.7(ELAC2):c.1659+12G>C
NM_018127.7(ELAC2):c.1659+12G>T
NM_018127.7(ELAC2):c.1659+20A>G
NM_018127.7(ELAC2):c.1659+8T>C
NM_018127.7(ELAC2):c.1660-10T>C rs1373415355
NM_018127.7(ELAC2):c.1660-10T>G
NM_018127.7(ELAC2):c.1660-17T>G rs2143564288
NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)
NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)
NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)
NM_018127.7(ELAC2):c.1696T>C (p.Leu566=) rs2143563741
NM_018127.7(ELAC2):c.1699-15C>A rs754311468
NM_018127.7(ELAC2):c.1699-15C>G
NM_018127.7(ELAC2):c.1699-16G>A rs765833496
NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)
NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)
NM_018127.7(ELAC2):c.171C>G (p.Thr57=)
NM_018127.7(ELAC2):c.174G>C (p.Val58=)
NM_018127.7(ELAC2):c.1794C>T (p.Val598=)
NM_018127.7(ELAC2):c.1808+14del rs761236461
NM_018127.7(ELAC2):c.1808+7A>G
NM_018127.7(ELAC2):c.1809-10C>T rs2040403434
NM_018127.7(ELAC2):c.1809-14T>G
NM_018127.7(ELAC2):c.1809-19A>G
NM_018127.7(ELAC2):c.180G>C (p.Leu60=)
NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)
NM_018127.7(ELAC2):c.1870T>C (p.Leu624=)
NM_018127.7(ELAC2):c.1884G>A (p.Leu628=) rs375891204
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.1908+16G>T rs773964699
NM_018127.7(ELAC2):c.1908+20G>A
NM_018127.7(ELAC2):c.1908+7G>A
NM_018127.7(ELAC2):c.1908+8G>A
NM_018127.7(ELAC2):c.1908+9C>T
NM_018127.7(ELAC2):c.1909-11C>T
NM_018127.7(ELAC2):c.1909-14C>T
NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)
NM_018127.7(ELAC2):c.1926G>A (p.Val642=)
NM_018127.7(ELAC2):c.1935C>T (p.Cys645=)
NM_018127.7(ELAC2):c.1944G>A (p.Ala648=)
NM_018127.7(ELAC2):c.1944G>T (p.Ala648=)
NM_018127.7(ELAC2):c.1959G>A (p.Leu653=)
NM_018127.7(ELAC2):c.1962G>A (p.Val654=)
NM_018127.7(ELAC2):c.1986C>T (p.Val662=) rs772271496
NM_018127.7(ELAC2):c.198T>C (p.Gly66=)
NM_018127.7(ELAC2):c.2010C>T (p.Cys670=) rs1598197387
NM_018127.7(ELAC2):c.2029+10G>A rs2143554371
NM_018127.7(ELAC2):c.2029+19A>C
NM_018127.7(ELAC2):c.2030-12C>T
NM_018127.7(ELAC2):c.2030-18del
NM_018127.7(ELAC2):c.2030-3del rs768715038
NM_018127.7(ELAC2):c.2030-4C>T
NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)
NM_018127.7(ELAC2):c.2047C>T (p.Leu683=)
NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)
NM_018127.7(ELAC2):c.2064C>T (p.Thr688=)
NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)
NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)
NM_018127.7(ELAC2):c.2108+8del rs2143551878
NM_018127.7(ELAC2):c.2108+9G>A rs2143551870
NM_018127.7(ELAC2):c.2109-15G>A
NM_018127.7(ELAC2):c.2109-18T>C
NM_018127.7(ELAC2):c.2121A>G (p.Gln707=)
NM_018127.7(ELAC2):c.2142G>T (p.Arg714=) rs878855050
NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)
NM_018127.7(ELAC2):c.2166G>C (p.Leu722=) rs747933914
NM_018127.7(ELAC2):c.2175C>T (p.Phe725=)
NM_018127.7(ELAC2):c.2184C>G (p.Arg728=) rs2143547737
NM_018127.7(ELAC2):c.2190C>T (p.Ala730=) rs2143547695
NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)
NM_018127.7(ELAC2):c.222C>T (p.Leu74=)
NM_018127.7(ELAC2):c.2253+14_2253+15del rs778977916
NM_018127.7(ELAC2):c.2253+15C>T
NM_018127.7(ELAC2):c.2253+16G>A rs1483814202
NM_018127.7(ELAC2):c.2253+20A>G
NM_018127.7(ELAC2):c.2254-13T>C
NM_018127.7(ELAC2):c.2254-14A>G
NM_018127.7(ELAC2):c.2254-9G>C
NM_018127.7(ELAC2):c.2289G>C (p.Leu763=) rs141048290
NM_018127.7(ELAC2):c.2325C>T (p.Ile775=) rs775479429
NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)
NM_018127.7(ELAC2):c.234C>G (p.Ser78=)
NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)
NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)
NM_018127.7(ELAC2):c.2412G>A (p.Glu804=) rs1165224986
NM_018127.7(ELAC2):c.2421G>A (p.Glu807=) rs2143539338
NM_018127.7(ELAC2):c.245+14C>T rs368694405
NM_018127.7(ELAC2):c.245+18G>T
NM_018127.7(ELAC2):c.245+9A>G
NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)
NM_018127.7(ELAC2):c.246-14T>C
NM_018127.7(ELAC2):c.246-18G>A
NM_018127.7(ELAC2):c.246-20G>C
NM_018127.7(ELAC2):c.246-7C>A
NM_018127.7(ELAC2):c.246-8T>C
NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)
NM_018127.7(ELAC2):c.282C>T (p.Leu94=) rs2143692376
NM_018127.7(ELAC2):c.294C>T (p.His98=)
NM_018127.7(ELAC2):c.296+11C>T
NM_018127.7(ELAC2):c.296+13_296+14del
NM_018127.7(ELAC2):c.296+3_296+6dup rs1182540305
NM_018127.7(ELAC2):c.297-14T>G
NM_018127.7(ELAC2):c.297-5del
NM_018127.7(ELAC2):c.297-8A>G
NM_018127.7(ELAC2):c.297-9C>A
NM_018127.7(ELAC2):c.30C>G (p.Ser10=)
NM_018127.7(ELAC2):c.333A>G (p.Thr111=)
NM_018127.7(ELAC2):c.33G>A (p.Ala11=)
NM_018127.7(ELAC2):c.360C>T (p.Gly120=)
NM_018127.7(ELAC2):c.367+15T>C
NM_018127.7(ELAC2):c.367+15del
NM_018127.7(ELAC2):c.368-10T>C
NM_018127.7(ELAC2):c.368-7T>A
NM_018127.7(ELAC2):c.402A>G (p.Pro134=)
NM_018127.7(ELAC2):c.432+10T>C
NM_018127.7(ELAC2):c.432+11C>T
NM_018127.7(ELAC2):c.432+12del
NM_018127.7(ELAC2):c.432+17A>C
NM_018127.7(ELAC2):c.432+7C>T rs780918165
NM_018127.7(ELAC2):c.433-16C>T rs2143678464
NM_018127.7(ELAC2):c.433-20A>G rs780641263
NM_018127.7(ELAC2):c.444C>G (p.Leu148=)
NM_018127.7(ELAC2):c.447A>G (p.Glu149=) rs2143678294
NM_018127.7(ELAC2):c.465T>C (p.Ser155=)
NM_018127.7(ELAC2):c.490+11G>C
NM_018127.7(ELAC2):c.491-4G>T
NM_018127.7(ELAC2):c.491-5T>C rs2143670362
NM_018127.7(ELAC2):c.501C>G (p.Pro167=)
NM_018127.7(ELAC2):c.519C>T (p.Tyr173=) rs2143670005
NM_018127.7(ELAC2):c.559+12del
NM_018127.7(ELAC2):c.559+18G>A rs2041518961
NM_018127.7(ELAC2):c.559+7A>G
NM_018127.7(ELAC2):c.559+8T>C rs2143669591
NM_018127.7(ELAC2):c.560-12T>C
NM_018127.7(ELAC2):c.560-15A>G rs2041429226
NM_018127.7(ELAC2):c.560-6G>A rs2143661977
NM_018127.7(ELAC2):c.576A>G (p.Gly192=) rs1410606129
NM_018127.7(ELAC2):c.606G>A (p.Arg202=)
NM_018127.7(ELAC2):c.621C>T (p.Leu207=)
NM_018127.7(ELAC2):c.627A>G (p.Pro209=)
NM_018127.7(ELAC2):c.63C>A (p.Thr21=)
NM_018127.7(ELAC2):c.660T>C (p.Asn220=)
NM_018127.7(ELAC2):c.679+11A>G rs937695443
NM_018127.7(ELAC2):c.679+14C>G
NM_018127.7(ELAC2):c.680-12G>C
NM_018127.7(ELAC2):c.680-14G>A
NM_018127.7(ELAC2):c.680-16G>C
NM_018127.7(ELAC2):c.684T>C (p.Val228=)
NM_018127.7(ELAC2):c.714C>G (p.Ser238=)
NM_018127.7(ELAC2):c.720C>T (p.Val240=)
NM_018127.7(ELAC2):c.738+12T>A
NM_018127.7(ELAC2):c.738+13T>C
NM_018127.7(ELAC2):c.738+14T>G
NM_018127.7(ELAC2):c.738+15C>G
NM_018127.7(ELAC2):c.739-20C>G
NM_018127.7(ELAC2):c.75A>C (p.Ala25=)
NM_018127.7(ELAC2):c.792C>T (p.Leu264=)
NM_018127.7(ELAC2):c.797+16A>G rs895800256
NM_018127.7(ELAC2):c.797+20C>T
NM_018127.7(ELAC2):c.797+8T>C
NM_018127.7(ELAC2):c.797+8T>G
NM_018127.7(ELAC2):c.797+8_797+9del
NM_018127.7(ELAC2):c.797+9G>A
NM_018127.7(ELAC2):c.797+9G>C rs762820869
NM_018127.7(ELAC2):c.798-19C>T
NM_018127.7(ELAC2):c.828T>C (p.Ala276=)
NM_018127.7(ELAC2):c.855T>C (p.Thr285=)
NM_018127.7(ELAC2):c.858T>C (p.His286=)
NM_018127.7(ELAC2):c.871-11del rs781302974
NM_018127.7(ELAC2):c.871-18G>A
NM_018127.7(ELAC2):c.871-9G>C rs750378111
NM_018127.7(ELAC2):c.87C>G (p.Arg29=)
NM_018127.7(ELAC2):c.897T>C (p.Pro299=)
NM_018127.7(ELAC2):c.900A>G (p.Pro300=) rs1567758616
NM_018127.7(ELAC2):c.921G>C (p.Val307=)
NM_018127.7(ELAC2):c.924G>C (p.Val308=) rs2143621668
NM_018127.7(ELAC2):c.957C>T (p.Pro319=)
NM_018127.7(ELAC2):c.972C>T (p.Ala324=)
NM_018127.7(ELAC2):c.975C>G (p.Thr325=)
NM_018127.7(ELAC2):c.983+17A>G
NM_018127.7(ELAC2):c.983+19G>A
NM_018127.7(ELAC2):c.984-15C>T
NM_018127.7(ELAC2):c.984-3del
NM_018127.7(ELAC2):c.984-4C>T rs1375270986
NM_018127.7(ELAC2):c.984-5C>T rs752324594
NM_018127.7(ELAC2):c.996G>A (p.Lys332=)
NM_018127.7(ELAC2):c.9G>T (p.Ala3=)

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