ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.*258A>C rs151190415 0.00610
NM_001371596.2(MFSD8):c.*675T>C rs148636320 0.00481
NM_001371596.2(MFSD8):c.*2689T>C rs189321020 0.00326
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.155-15T>C rs374019724 0.00015
NM_001371596.2(MFSD8):c.199-11T>C rs750871697 0.00015
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.1102+13A>G rs371975482 0.00008
NM_001371596.2(MFSD8):c.1335A>G (p.Leu445=) rs145518709 0.00005
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=) rs201905099 0.00005
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045 0.00004
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=) rs781299975 0.00004
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=) rs138219028 0.00004
NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=) rs148864710 0.00003
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=) rs185047041 0.00003
NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=) rs1265498848 0.00003
NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=) rs140732035 0.00003
NM_001371596.2(MFSD8):c.554-6A>G rs759190605 0.00003
NM_001371596.2(MFSD8):c.78A>G (p.Leu26=) rs770986122 0.00003
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077 0.00003
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320 0.00002
NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=) rs751316775 0.00002
NM_001371596.2(MFSD8):c.1103-18A>G rs748197230 0.00002
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=) rs1477931820 0.00002
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=) rs776622815 0.00002
NM_001371596.2(MFSD8):c.177C>T (p.Ser59=) rs766788326 0.00002
NM_001371596.2(MFSD8):c.186A>G (p.Pro62=) rs750969105 0.00002
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=) rs1339889094 0.00002
NM_001371596.2(MFSD8):c.439+16T>A rs1320386320 0.00002
NM_001371596.2(MFSD8):c.465T>C (p.Tyr155=) rs753346740 0.00002
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969 0.00002
NM_001371596.2(MFSD8):c.63-4C>T rs764964269 0.00002
NM_001371596.2(MFSD8):c.863+9T>C rs201046915 0.00002
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=) rs141422574 0.00001
NM_001371596.2(MFSD8):c.1102+9A>G rs766114843 0.00001
NM_001371596.2(MFSD8):c.1206G>A (p.Ser402=) rs772377066 0.00001
NM_001371596.2(MFSD8):c.1218C>T (p.Ala406=) rs753832653 0.00001
NM_001371596.2(MFSD8):c.1351-10C>T rs1419970423 0.00001
NM_001371596.2(MFSD8):c.1351-6C>T rs1288349006 0.00001
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=) rs1473670776 0.00001
NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=) rs1736221866 0.00001
NM_001371596.2(MFSD8):c.154+11G>T rs373643838 0.00001
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=) rs753433200 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001371596.2(MFSD8):c.162T>G (p.Ser54=) rs777277246 0.00001
NM_001371596.2(MFSD8):c.207G>A (p.Pro69=) rs781051390 0.00001
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391 0.00001
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=) rs754809138 0.00001
NM_001371596.2(MFSD8):c.27A>G (p.Glu9=) rs1216544839 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=) rs754739634 0.00001
NM_001371596.2(MFSD8):c.306A>G (p.Pro102=) rs746201253 0.00001
NM_001371596.2(MFSD8):c.315G>A (p.Glu105=) rs1740610356 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001371596.2(MFSD8):c.531A>G (p.Ala177=) rs376733427 0.00001
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=) rs929058333 0.00001
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) rs1243416801 0.00001
NM_001371596.2(MFSD8):c.63-9T>C rs754893282 0.00001
NM_001371596.2(MFSD8):c.651C>T (p.Ser217=) rs1298333228 0.00001
NM_001371596.2(MFSD8):c.681G>T (p.Leu227=) rs754149229 0.00001
NM_001371596.2(MFSD8):c.6C>T (p.Ala2=) rs1261295844 0.00001
NM_001371596.2(MFSD8):c.714T>C (p.Asp238=) rs1012101360 0.00001
NM_001371596.2(MFSD8):c.726A>G (p.Arg242=) rs753174925 0.00001
NM_001371596.2(MFSD8):c.72C>T (p.Asp24=) rs775812921 0.00001
NM_001371596.2(MFSD8):c.755-6C>T rs752118814 0.00001
NM_001371596.2(MFSD8):c.774G>A (p.Gln258=) rs773465316 0.00001
NM_001371596.2(MFSD8):c.807T>A (p.Val269=) rs1199001687 0.00001
NM_001371596.2(MFSD8):c.813C>T (p.Ala271=) rs768499490 0.00001
NM_001371596.2(MFSD8):c.840A>G (p.Leu280=) rs199982542 0.00001
NM_001371596.2(MFSD8):c.852C>T (p.Ala284=) rs1405791431 0.00001
NM_001371596.2(MFSD8):c.863+8T>C rs766959611 0.00001
NM_001371596.2(MFSD8):c.864-4T>C rs1487175945 0.00001
NM_001371596.2(MFSD8):c.876A>G (p.Pro292=) rs770483205 0.00001
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043 0.00001
NM_001371596.2(MFSD8):c.927T>C (p.Asn309=) rs1217108120 0.00001
NM_001371596.2(MFSD8):c.954T>C (p.Val318=) rs1299370477 0.00001
NM_001371596.2(MFSD8):c.960C>T (p.Ala320=) rs376954943 0.00001
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) rs570989221 0.00001
NM_001371596.2(MFSD8):c.999-12G>A rs766315917 0.00001
NM_001371596.2(MFSD8):c.*1280T>A rs146441639
NM_001371596.2(MFSD8):c.*492A>T rs534206104
NM_001371596.2(MFSD8):c.1002T>C (p.Ile334=)
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.1005C>T (p.Gly335=)
NM_001371596.2(MFSD8):c.1008G>A (p.Glu336=)
NM_001371596.2(MFSD8):c.1014T>A (p.Ala338=) rs2148841418
NM_001371596.2(MFSD8):c.1020A>C (p.Leu340=)
NM_001371596.2(MFSD8):c.1029A>G (p.Gly343=) rs1220404877
NM_001371596.2(MFSD8):c.1029A>T (p.Gly343=)
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_001371596.2(MFSD8):c.1032C>T (p.Leu344=)
NM_001371596.2(MFSD8):c.1047T>G (p.Val349=) rs2148841201
NM_001371596.2(MFSD8):c.1050C>T (p.Gly350=) rs2148841187
NM_001371596.2(MFSD8):c.105A>G (p.Arg35=)
NM_001371596.2(MFSD8):c.105A>T (p.Arg35=)
NM_001371596.2(MFSD8):c.1060T>C (p.Leu354=) rs2148841165
NM_001371596.2(MFSD8):c.1086C>G (p.Pro362=)
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.10C>T (p.Leu4=)
NM_001371596.2(MFSD8):c.1102+11A>T
NM_001371596.2(MFSD8):c.1102+12C>T
NM_001371596.2(MFSD8):c.1102+14T>C rs765323039
NM_001371596.2(MFSD8):c.1102+18T>A
NM_001371596.2(MFSD8):c.1103-10_1103-8del
NM_001371596.2(MFSD8):c.1103-18A>T
NM_001371596.2(MFSD8):c.1103-4A>G
NM_001371596.2(MFSD8):c.1103-5T>C rs2148840518
NM_001371596.2(MFSD8):c.1103-9T>G
NM_001371596.2(MFSD8):c.1131C>T (p.Thr377=) rs760689362
NM_001371596.2(MFSD8):c.1140G>T (p.Gly380=)
NM_001371596.2(MFSD8):c.1146T>A (p.Ile382=) rs2148840260
NM_001371596.2(MFSD8):c.1149T>C (p.Ile383=)
NM_001371596.2(MFSD8):c.114T>C (p.Ser38=) rs2148972697
NM_001371596.2(MFSD8):c.1155T>C (p.Gly385=) rs1736362173
NM_001371596.2(MFSD8):c.1170A>G (p.Pro390=) rs2148840190
NM_001371596.2(MFSD8):c.1179T>C (p.Asp393=)
NM_001371596.2(MFSD8):c.1188A>G (p.Glu396=)
NM_001371596.2(MFSD8):c.1206G>T (p.Ser402=) rs772377066
NM_001371596.2(MFSD8):c.1227C>T (p.Leu409=)
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=) rs1057520928
NM_001371596.2(MFSD8):c.1236G>C (p.Pro412=)
NM_001371596.2(MFSD8):c.1257C>T (p.Phe419=) rs750743360
NM_001371596.2(MFSD8):c.1263A>G (p.Thr421=)
NM_001371596.2(MFSD8):c.1266A>G (p.Ser422=)
NM_001371596.2(MFSD8):c.126A>G (p.Leu42=)
NM_001371596.2(MFSD8):c.1273C>T (p.Leu425=)
NM_001371596.2(MFSD8):c.1287C>G (p.Gly429=)
NM_001371596.2(MFSD8):c.12G>A (p.Leu4=)
NM_001371596.2(MFSD8):c.1314T>C (p.Tyr438=) rs2148839504
NM_001371596.2(MFSD8):c.1323T>C (p.Tyr441=)
NM_001371596.2(MFSD8):c.1344A>G (p.Lys448=)
NM_001371596.2(MFSD8):c.1350+14C>A rs1311770324
NM_001371596.2(MFSD8):c.1350+16T>C
NM_001371596.2(MFSD8):c.1350+17G>A
NM_001371596.2(MFSD8):c.1350+19C>T
NM_001371596.2(MFSD8):c.1350+8A>G rs1736330551
NM_001371596.2(MFSD8):c.1351-11_1351-10insAT
NM_001371596.2(MFSD8):c.1351-5A>G rs1560716066
NM_001371596.2(MFSD8):c.1351-7C>A
NM_001371596.2(MFSD8):c.1351-7C>T
NM_001371596.2(MFSD8):c.1351-9C>G
NM_001371596.2(MFSD8):c.1383A>C (p.Gly461=)
NM_001371596.2(MFSD8):c.1392C>T (p.Ala464=)
NM_001371596.2(MFSD8):c.1401T>A (p.Leu467=)
NM_001371596.2(MFSD8):c.1404G>C (p.Gly468=) rs2148837253
NM_001371596.2(MFSD8):c.1416C>A (p.Ile472=)
NM_001371596.2(MFSD8):c.1425G>A (p.Val475=) rs1736226991
NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=)
NM_001371596.2(MFSD8):c.1434C>T (p.His478=) rs2148837142
NM_001371596.2(MFSD8):c.144C>T (p.Leu48=) rs2148972539
NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=) rs2148837080
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001371596.2(MFSD8):c.147C>T (p.Ser49=)
NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=) rs2148836945
NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=) rs2148836936
NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=) rs769642042
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=) rs1553943451
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=) rs2148836761
NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=)
NM_001371596.2(MFSD8):c.154+11_154+13del
NM_001371596.2(MFSD8):c.154+13A>G
NM_001371596.2(MFSD8):c.154+17C>G
NM_001371596.2(MFSD8):c.154+17C>T
NM_001371596.2(MFSD8):c.154+19T>C rs1057521818
NM_001371596.2(MFSD8):c.154+7A>G rs2148972452
NM_001371596.2(MFSD8):c.154+8T>G rs2148972443
NM_001371596.2(MFSD8):c.155-10T>C
NM_001371596.2(MFSD8):c.155-10T>G rs1343380061
NM_001371596.2(MFSD8):c.155-11C>T
NM_001371596.2(MFSD8):c.155-12G>A
NM_001371596.2(MFSD8):c.155-19C>T
NM_001371596.2(MFSD8):c.155-19del
NM_001371596.2(MFSD8):c.155-20C>T rs2148944010
NM_001371596.2(MFSD8):c.155-8C>T rs2148943930
NM_001371596.2(MFSD8):c.155-8del
NM_001371596.2(MFSD8):c.155-9del rs1060504501
NM_001371596.2(MFSD8):c.1554A>G (p.Glu518=)
NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=)
NM_001371596.2(MFSD8):c.162T>C (p.Ser54=)
NM_001371596.2(MFSD8):c.165A>G (p.Val55=)
NM_001371596.2(MFSD8):c.168G>T (p.Val56=) rs1741654669
NM_001371596.2(MFSD8):c.186A>C (p.Pro62=) rs750969105
NM_001371596.2(MFSD8):c.186A>T (p.Pro62=) rs750969105
NM_001371596.2(MFSD8):c.18C>T (p.Asn6=)
NM_001371596.2(MFSD8):c.192C>A (p.Leu64=) rs1741648648
NM_001371596.2(MFSD8):c.198+14A>T
NM_001371596.2(MFSD8):c.198+16T>A
NM_001371596.2(MFSD8):c.198+17C>A
NM_001371596.2(MFSD8):c.198+18T>G
NM_001371596.2(MFSD8):c.198+7A>G rs776834172
NM_001371596.2(MFSD8):c.199-12C>A
NM_001371596.2(MFSD8):c.199-12C>G
NM_001371596.2(MFSD8):c.199-13C>T rs1740632149
NM_001371596.2(MFSD8):c.199-16G>A rs971319854
NM_001371596.2(MFSD8):c.199-16G>C
NM_001371596.2(MFSD8):c.199-17T>C
NM_001371596.2(MFSD8):c.199-5T>C rs1578912790
NM_001371596.2(MFSD8):c.199-8T>G rs112721309
NM_001371596.2(MFSD8):c.199-8_199-7insGG rs2148922788
NM_001371596.2(MFSD8):c.204T>C (p.Asp68=)
NM_001371596.2(MFSD8):c.213T>C (p.Ala71=)
NM_001371596.2(MFSD8):c.216T>C (p.Asp72=)
NM_001371596.2(MFSD8):c.219A>C (p.Thr73=)
NM_001371596.2(MFSD8):c.225T>C (p.Phe75=) rs2148922604
NM_001371596.2(MFSD8):c.240T>C (p.Ile80=) rs1578912301
NM_001371596.2(MFSD8):c.246A>C (p.Ser82=)
NM_001371596.2(MFSD8):c.246A>G (p.Ser82=) rs2148922522
NM_001371596.2(MFSD8):c.249T>C (p.Tyr83=) rs2148922498
NM_001371596.2(MFSD8):c.24T>C (p.Ser8=) rs2149008674
NM_001371596.2(MFSD8):c.294T>A (p.Ser98=)
NM_001371596.2(MFSD8):c.306A>T (p.Pro102=) rs746201253
NM_001371596.2(MFSD8):c.348A>G (p.Ala116=) rs2148922108
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=) rs1553950874
NM_001371596.2(MFSD8):c.360C>T (p.Leu120=) rs2148922029
NM_001371596.2(MFSD8):c.363T>C (p.Tyr121=)
NM_001371596.2(MFSD8):c.366A>G (p.Ala122=) rs1283789637
NM_001371596.2(MFSD8):c.36G>T (p.Pro12=) rs1053504874
NM_001371596.2(MFSD8):c.372C>T (p.Leu124=)
NM_001371596.2(MFSD8):c.375C>T (p.His125=) rs1578911454
NM_001371596.2(MFSD8):c.378C>T (p.Ile126=)
NM_001371596.2(MFSD8):c.381A>G (p.Pro127=)
NM_001371596.2(MFSD8):c.393T>C (p.Asn131=) rs1553950849
NM_001371596.2(MFSD8):c.39C>G (p.Leu13=)
NM_001371596.2(MFSD8):c.402C>T (p.Tyr134=)
NM_001371596.2(MFSD8):c.408G>T (p.Leu136=) rs1578911241
NM_001371596.2(MFSD8):c.411T>C (p.Val137=) rs201652718
NM_001371596.2(MFSD8):c.414T>G (p.Ala138=)
NM_001371596.2(MFSD8):c.420A>G (p.Gly140=)
NM_001371596.2(MFSD8):c.424T>C (p.Leu142=) rs2148921676
NM_001371596.2(MFSD8):c.42A>G (p.Leu14=)
NM_001371596.2(MFSD8):c.439+12T>G
NM_001371596.2(MFSD8):c.439+13G>A
NM_001371596.2(MFSD8):c.439+15A>G
NM_001371596.2(MFSD8):c.439+15A>T
NM_001371596.2(MFSD8):c.439+17A>G
NM_001371596.2(MFSD8):c.439+17_439+18del
NM_001371596.2(MFSD8):c.439+18T>C
NM_001371596.2(MFSD8):c.439+20_439+23del rs1740580816
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.440-14G>A
NM_001371596.2(MFSD8):c.440-16G>A
NM_001371596.2(MFSD8):c.440-7T>A rs2148915878
NM_001371596.2(MFSD8):c.440-9G>A
NM_001371596.2(MFSD8):c.447A>G (p.Val149=)
NM_001371596.2(MFSD8):c.453T>C (p.Val151=) rs750205976
NM_001371596.2(MFSD8):c.459A>G (p.Arg153=) rs2148915775
NM_001371596.2(MFSD8):c.45C>A (p.Gly15=)
NM_001371596.2(MFSD8):c.462A>G (p.Ser154=) rs2148915757
NM_001371596.2(MFSD8):c.483C>T (p.Ser161=) rs2148915652
NM_001371596.2(MFSD8):c.525T>C (p.Cys175=) rs556661896
NM_001371596.2(MFSD8):c.534A>G (p.Leu178=) rs1740280377
NM_001371596.2(MFSD8):c.553+16A>T
NM_001371596.2(MFSD8):c.553+18_553+19del
NM_001371596.2(MFSD8):c.554-10T>C
NM_001371596.2(MFSD8):c.554-4T>A
NM_001371596.2(MFSD8):c.554-7T>C
NM_001371596.2(MFSD8):c.573A>T (p.Thr191=)
NM_001371596.2(MFSD8):c.579T>C (p.Leu193=)
NM_001371596.2(MFSD8):c.597A>G (p.Thr199=)
NM_001371596.2(MFSD8):c.62+18G>A
NM_001371596.2(MFSD8):c.62+18G>T
NM_001371596.2(MFSD8):c.62+8G>A rs2149008103
NM_001371596.2(MFSD8):c.624C>T (p.Asn208=) rs2148907532
NM_001371596.2(MFSD8):c.63-12_63-10del rs2148973081
NM_001371596.2(MFSD8):c.63-13del
NM_001371596.2(MFSD8):c.63-14T>A
NM_001371596.2(MFSD8):c.63-15C>T
NM_001371596.2(MFSD8):c.63-16T>C rs2148973104
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.63-8A>G rs751480930
NM_001371596.2(MFSD8):c.63-8A>T
NM_001371596.2(MFSD8):c.630T>C (p.Tyr210=) rs2148907497
NM_001371596.2(MFSD8):c.639A>C (p.Pro213=)
NM_001371596.2(MFSD8):c.639A>G (p.Pro213=)
NM_001371596.2(MFSD8):c.654C>A (p.Ala218=)
NM_001371596.2(MFSD8):c.654C>T (p.Ala218=) rs766992766
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=) rs145529594
NM_001371596.2(MFSD8):c.693A>T (p.Ile231=)
NM_001371596.2(MFSD8):c.694C>T (p.Leu232=) rs2148907140
NM_001371596.2(MFSD8):c.698+10_698+13del rs1739839175
NM_001371596.2(MFSD8):c.698+15A>G
NM_001371596.2(MFSD8):c.698+16T>C
NM_001371596.2(MFSD8):c.698+17G>C
NM_001371596.2(MFSD8):c.698+18A>G
NM_001371596.2(MFSD8):c.698+7A>G rs1437168458
NM_001371596.2(MFSD8):c.699-17G>A
NM_001371596.2(MFSD8):c.699-4T>C rs2148902864
NM_001371596.2(MFSD8):c.6C>G (p.Ala2=) rs1261295844
NM_001371596.2(MFSD8):c.708T>G (p.Arg236=) rs2148902785
NM_001371596.2(MFSD8):c.735A>G (p.Lys245=) rs2148902676
NM_001371596.2(MFSD8):c.750A>G (p.Glu250=) rs2148902616
NM_001371596.2(MFSD8):c.754+11C>T
NM_001371596.2(MFSD8):c.754+16T>C
NM_001371596.2(MFSD8):c.755-14C>A
NM_001371596.2(MFSD8):c.755-15C>A rs767947557
NM_001371596.2(MFSD8):c.755-15C>T
NM_001371596.2(MFSD8):c.755-18T>C
NM_001371596.2(MFSD8):c.755-4A>G rs766510873
NM_001371596.2(MFSD8):c.755-7C>T rs2148882528
NM_001371596.2(MFSD8):c.759T>C (p.Ser253=) rs2148882499
NM_001371596.2(MFSD8):c.765T>C (p.Asp255=)
NM_001371596.2(MFSD8):c.780C>G (p.Pro260=)
NM_001371596.2(MFSD8):c.792T>A (p.Ile264=) rs1738427095
NM_001371596.2(MFSD8):c.798G>A (p.Gln266=) rs2148882297
NM_001371596.2(MFSD8):c.807T>C (p.Val269=) rs1199001687
NM_001371596.2(MFSD8):c.84T>C (p.Thr28=)
NM_001371596.2(MFSD8):c.863+14C>T
NM_001371596.2(MFSD8):c.863+15A>C
NM_001371596.2(MFSD8):c.863+15A>G
NM_001371596.2(MFSD8):c.863+20C>A
NM_001371596.2(MFSD8):c.864-10T>C
NM_001371596.2(MFSD8):c.864-14T>C
NM_001371596.2(MFSD8):c.864-15T>A
NM_001371596.2(MFSD8):c.864-17_864-15del
NM_001371596.2(MFSD8):c.864-19A>T
NM_001371596.2(MFSD8):c.864-20A>T
NM_001371596.2(MFSD8):c.873T>A (p.Thr291=) rs1737992977
NM_001371596.2(MFSD8):c.882A>G (p.Thr294=)
NM_001371596.2(MFSD8):c.888T>C (p.Asp296=)
NM_001371596.2(MFSD8):c.894T>C (p.Tyr298=) rs118203977
NM_001371596.2(MFSD8):c.897C>G (p.Ala299=) rs747352043
NM_001371596.2(MFSD8):c.918G>A (p.Val306=) rs2148873600
NM_001371596.2(MFSD8):c.919T>C (p.Leu307=) rs1737983796
NM_001371596.2(MFSD8):c.930C>T (p.Gly310=)
NM_001371596.2(MFSD8):c.933A>T (p.Ile311=) rs2148873518
NM_001371596.2(MFSD8):c.939T>G (p.Leu313=)
NM_001371596.2(MFSD8):c.93T>C (p.His31=)
NM_001371596.2(MFSD8):c.945T>C (p.Ala315=) rs2148873447
NM_001371596.2(MFSD8):c.963T>A (p.Val321=)
NM_001371596.2(MFSD8):c.963T>C (p.Val321=) rs762491362
NM_001371596.2(MFSD8):c.96T>C (p.Tyr32=) rs1014332712
NM_001371596.2(MFSD8):c.993C>T (p.Ser331=) rs2148873268
NM_001371596.2(MFSD8):c.998+11T>G
NM_001371596.2(MFSD8):c.998+17T>G
NM_001371596.2(MFSD8):c.998+18G>T
NM_001371596.2(MFSD8):c.998+9A>G
NM_001371596.2(MFSD8):c.999-10T>C
NM_001371596.2(MFSD8):c.999-4A>T rs910246095

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