ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001371596.2(MFSD8):c.*2613T>C rs539367239 0.00150
NM_001371596.2(MFSD8):c.*2021C>T rs780466040 0.00091
NM_001371596.2(MFSD8):c.*2006A>C rs181240021 0.00090
NM_001371596.2(MFSD8):c.*1147G>A rs189901544 0.00082
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
NM_001371596.2(MFSD8):c.*463A>T rs181696565 0.00054
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) rs147295085 0.00054
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) rs112734134 0.00048
NM_001371596.2(MFSD8):c.*1058A>G rs531103173 0.00047
NM_001371596.2(MFSD8):c.*2309G>A rs753944036 0.00034
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.*2104T>C rs139930263 0.00026
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile) rs1414250428 0.00016
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) rs77098161 0.00013
NM_001371596.2(MFSD8):c.*1680A>G rs1048664726 0.00012
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039 0.00010
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu) rs777020801 0.00010
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met) rs377029630 0.00010
NM_001371596.2(MFSD8):c.*734A>G rs1027710245 0.00007
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu) rs528664888 0.00007
NM_001371596.2(MFSD8):c.409G>A (p.Val137Ile) rs146479250 0.00006
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val) rs375681665 0.00006
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu) rs976533060 0.00005
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys) rs773610115 0.00004
NM_001371596.2(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763 0.00004
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311 0.00004
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro) rs139409959 0.00004
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) rs371882083 0.00004
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala) rs763119554 0.00004
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile) rs76506918 0.00004
NM_001371596.2(MFSD8):c.*1161A>C rs767418097 0.00003
NM_001371596.2(MFSD8):c.*2294G>A rs924270202 0.00003
NM_001371596.2(MFSD8):c.*695A>G rs886059068 0.00003
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) rs771879274 0.00003
NM_001371596.2(MFSD8):c.256G>A (p.Gly86Ser) rs552923962 0.00003
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) rs796052749 0.00003
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_001371596.2(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371596.2(MFSD8):c.707G>A (p.Arg236His) rs371250204 0.00003
NM_001371596.2(MFSD8):c.*1455G>A rs979851286 0.00002
NM_001371596.2(MFSD8):c.*2314G>A rs1386466120 0.00002
NM_001371596.2(MFSD8):c.1102+6G>A rs772154101 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln) rs547726489 0.00002
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys) rs796052748 0.00002
NM_001371596.2(MFSD8):c.178A>G (p.Ile60Val) rs143902749 0.00002
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val) rs578102641 0.00002
NM_001371596.2(MFSD8):c.400T>C (p.Tyr134His) rs776316095 0.00002
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val) rs753930474 0.00002
NM_001371596.2(MFSD8):c.*1471T>C rs886059066 0.00001
NM_001371596.2(MFSD8):c.*2146A>G rs750676275 0.00001
NM_001371596.2(MFSD8):c.*2214A>G rs886059065 0.00001
NM_001371596.2(MFSD8):c.*2270G>C rs886059064 0.00001
NM_001371596.2(MFSD8):c.*250G>A rs980825570 0.00001
NM_001371596.2(MFSD8):c.*2592A>G rs924357088 0.00001
NM_001371596.2(MFSD8):c.*2683C>T rs886059063 0.00001
NM_001371596.2(MFSD8):c.*369G>A rs534031511 0.00001
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His) rs200386040 0.00001
NM_001371596.2(MFSD8):c.1015A>G (p.Ile339Val) rs1280781007 0.00001
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile) rs746209973 0.00001
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala) rs1331862351 0.00001
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013 0.00001
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys) rs758114648 0.00001
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn) rs140349255 0.00001
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His) rs777361767 0.00001
NM_001371596.2(MFSD8):c.1258C>T (p.Leu420Phe) rs1398267947 0.00001
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961 0.00001
NM_001371596.2(MFSD8):c.1265C>T (p.Ser422Leu) rs1394582555 0.00001
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met) rs910297451 0.00001
NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val) rs1334064077 0.00001
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu) rs760640742 0.00001
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys) rs1421635169 0.00001
NM_001371596.2(MFSD8):c.1307T>C (p.Met436Thr) rs1405931975 0.00001
NM_001371596.2(MFSD8):c.133A>T (p.Thr45Ser) rs1743087138 0.00001
NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu) rs780779080 0.00001
NM_001371596.2(MFSD8):c.1351-1G>A rs565253666 0.00001
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val) rs1427310721 0.00001
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val) rs758095101 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter) rs1216600395 0.00001
NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro) rs1217401163 0.00001
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu) rs1408300356 0.00001
NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys) rs1385542021 0.00001
NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg) rs1443934235 0.00001
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His) rs1227280018 0.00001
NM_001371596.2(MFSD8):c.218C>T (p.Thr73Ile) rs377555060 0.00001
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr) rs759313071 0.00001
NM_001371596.2(MFSD8):c.22A>G (p.Ser8Gly) rs747446547 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu) rs1458806628 0.00001
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser) rs148916499 0.00001
NM_001371596.2(MFSD8):c.316C>T (p.Pro106Ser) rs757793193 0.00001
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) rs759795397 0.00001
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu) rs749496400 0.00001
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile) rs150892838 0.00001
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val) rs150892838 0.00001
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val) rs768398882 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr) rs1227703492 0.00001
NM_001371596.2(MFSD8):c.436G>A (p.Ala146Thr) rs755152088 0.00001
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile) rs1162750836 0.00001
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr) rs1355954321 0.00001
NM_001371596.2(MFSD8):c.596C>T (p.Thr199Ile) rs1175598258 0.00001
NM_001371596.2(MFSD8):c.604G>A (p.Val202Met) rs757623473 0.00001
NM_001371596.2(MFSD8):c.632C>T (p.Thr211Ile) rs925670950 0.00001
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser) rs201926015 0.00001
NM_001371596.2(MFSD8):c.699-5T>G rs751010275 0.00001
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys) rs758002981 0.00001
NM_001371596.2(MFSD8):c.769G>A (p.Ala257Thr) rs1255391064 0.00001
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val) rs1300137848 0.00001
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser) rs1174831833 0.00001
NM_001371596.2(MFSD8):c.787A>G (p.Asn263Asp) rs374234685 0.00001
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) rs796052743 0.00001
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val) rs749001842 0.00001
NM_001371596.2(MFSD8):c.863+4A>G rs752035164 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.91C>G (p.His31Asp) rs1296514095 0.00001
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312 0.00001
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
NC_000004.11:g.(?_128554190)_(128886288_?)dup
NC_000004.11:g.(?_128802290)_(128886288_?)dup
NC_000004.11:g.(?_128804417)_(129131208_?)dup
NC_000004.11:g.(?_128841785)_(128851992_?)dup
NC_000004.11:g.(?_128851818)_(128886288_?)dup
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.11:g.(?_128886207)_(128886288_?)dup
NC_000004.12:g.(?_127920610)_(127965153_?)dup
NM_001371596.2(MFSD8):c.*1603C>T rs536079775
NM_001371596.2(MFSD8):c.*1709G>C rs1736073397
NM_001371596.2(MFSD8):c.*1918T>C rs1736059247
NM_001371596.2(MFSD8):c.*1969G>C rs547746685
NM_001371596.2(MFSD8):c.*2010T>C rs1736052846
NM_001371596.2(MFSD8):c.*208C>T rs886059069
NM_001371596.2(MFSD8):c.*2369C>G rs150664430
NM_001371596.2(MFSD8):c.*414C>A rs566768714
NM_001371596.2(MFSD8):c.*839C>A rs886059067
NM_001371596.2(MFSD8):c.*842T>G rs1736132516
NM_001371596.2(MFSD8):c.1001T>C (p.Ile334Thr)
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)
NM_001371596.2(MFSD8):c.1010G>C (p.Arg337Pro) rs200386040
NM_001371596.2(MFSD8):c.1013C>A (p.Ala338Asp)
NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser) rs2148841393
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)
NM_001371596.2(MFSD8):c.1039G>A (p.Val347Ile)
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.106T>C (p.Trp36Arg) rs200001979
NM_001371596.2(MFSD8):c.1072G>A (p.Gly358Arg) rs781391960
NM_001371596.2(MFSD8):c.1093C>G (p.Gln365Glu) rs904329013
NM_001371596.2(MFSD8):c.1094A>G (p.Gln365Arg)
NM_001371596.2(MFSD8):c.1096T>C (p.Trp366Arg)
NM_001371596.2(MFSD8):c.1103-10_1103-6del rs1212979817
NM_001371596.2(MFSD8):c.1103-16G>A
NM_001371596.2(MFSD8):c.1103A>G (p.Asp368Gly)
NM_001371596.2(MFSD8):c.1106T>C (p.Leu369Ser) rs2148840460
NM_001371596.2(MFSD8):c.1109A>T (p.His370Leu) rs1578794999
NM_001371596.2(MFSD8):c.110G>A (p.Arg37Lys)
NM_001371596.2(MFSD8):c.110G>T (p.Arg37Ile) rs915454873
NM_001371596.2(MFSD8):c.1112A>G (p.Asn371Ser)
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val) rs1736367637
NM_001371596.2(MFSD8):c.112T>G (p.Ser38Ala)
NM_001371596.2(MFSD8):c.1135T>A (p.Phe379Ile)
NM_001371596.2(MFSD8):c.1151T>C (p.Ile384Thr)
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val) rs201739608
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1161G>C (p.Trp387Cys)
NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala) rs767262517
NM_001371596.2(MFSD8):c.1171A>G (p.Met391Val)
NM_001371596.2(MFSD8):c.1172T>C (p.Met391Thr)
NM_001371596.2(MFSD8):c.1176A>C (p.Glu392Asp)
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val) rs762336516
NM_001371596.2(MFSD8):c.1190G>T (p.Arg397Ile) rs1736357135
NM_001371596.2(MFSD8):c.1196C>T (p.Thr399Ile)
NM_001371596.2(MFSD8):c.119G>C (p.Arg40Thr)
NM_001371596.2(MFSD8):c.1208T>A (p.Ile403Asn)
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)
NM_001371596.2(MFSD8):c.1217C>G (p.Ala406Gly)
NM_001371596.2(MFSD8):c.1225C>G (p.Leu409Val)
NM_001371596.2(MFSD8):c.1231A>G (p.Thr411Ala) rs755570201
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=)
NM_001371596.2(MFSD8):c.1249G>A (p.Ala417Thr)
NM_001371596.2(MFSD8):c.1267G>C (p.Ala423Pro)
NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met) rs769272117
NM_001371596.2(MFSD8):c.1280G>T (p.Gly427Val)
NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala) rs2148839575
NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr) rs1464046484
NM_001371596.2(MFSD8):c.1318C>G (p.Leu440Val) rs879270594
NM_001371596.2(MFSD8):c.1378T>C (p.Ser460Pro)
NM_001371596.2(MFSD8):c.1387G>A (p.Gly463Arg)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.1399C>A (p.Leu467Ile) rs754100928
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu) rs1560715852
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1415T>A (p.Ile472Asn)
NM_001371596.2(MFSD8):c.1417A>G (p.Ser473Gly) rs1736228639
NM_001371596.2(MFSD8):c.1418G>A (p.Ser473Asn)
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)
NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys) rs1291422135
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu) rs1736225136
NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln) rs2148837142
NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val) rs2148837121
NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala)
NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet)
NM_001371596.2(MFSD8):c.145A>G (p.Ser49Gly)
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val)
NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe)
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys) rs1355810376
NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln) rs139409959
NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter)
NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg) rs1736213182
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val) rs570757797
NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro) rs1736211859
NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met) rs779560159
NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly) rs745541140
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) rs587781037
NM_001371596.2(MFSD8):c.154+4_154+7del
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr) rs2148836666
NM_001371596.2(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_001371596.2(MFSD8):c.163G>A (p.Val55Ile)
NM_001371596.2(MFSD8):c.16A>C (p.Asn6His)
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr) rs895772342
NM_001371596.2(MFSD8):c.173T>C (p.Met58Thr) rs1578944380
NM_001371596.2(MFSD8):c.174G>T (p.Met58Ile)
NM_001371596.2(MFSD8):c.17A>C (p.Asn6Thr) rs2149008801
NM_001371596.2(MFSD8):c.195A>G (p.Gln65=) rs2148943646
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu) rs749244700
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe) rs749244700
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr) rs780548594
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met) rs1578912301
NM_001371596.2(MFSD8):c.245C>T (p.Ser82Leu) rs2148922530
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys) rs1740619758
NM_001371596.2(MFSD8):c.251G>A (p.Ser84Asn)
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)
NM_001371596.2(MFSD8):c.319C>G (p.Leu107Val)
NM_001371596.2(MFSD8):c.32A>G (p.Glu11Gly) rs1485138561
NM_001371596.2(MFSD8):c.356G>A (p.Cys119Tyr)
NM_001371596.2(MFSD8):c.358C>G (p.Leu120Val)
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser) rs118203978
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_001371596.2(MFSD8):c.379C>A (p.Pro127Thr)
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe) rs150892838
NM_001371596.2(MFSD8):c.380C>T (p.Pro127Leu)
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser) rs1740590363
NM_001371596.2(MFSD8):c.423G>T (p.Leu141Phe) rs1462440516
NM_001371596.2(MFSD8):c.428G>A (p.Gly143Glu)
NM_001371596.2(MFSD8):c.433G>A (p.Gly145Arg)
NM_001371596.2(MFSD8):c.439+4A>G rs751782767
NM_001371596.2(MFSD8):c.439+5G>A
NM_001371596.2(MFSD8):c.439+6G>A
NM_001371596.2(MFSD8):c.439+6G>T
NM_001371596.2(MFSD8):c.440-7T>G
NM_001371596.2(MFSD8):c.454G>T (p.Val152Phe) rs2148915793
NM_001371596.2(MFSD8):c.459A>T (p.Arg153Ser)
NM_001371596.2(MFSD8):c.467C>T (p.Thr156Ile) rs1740291651
NM_001371596.2(MFSD8):c.46G>A (p.Asp16Asn) rs752624076
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser) rs1740290508
NM_001371596.2(MFSD8):c.496A>G (p.Thr166Ala)
NM_001371596.2(MFSD8):c.4G>A (p.Ala2Thr)
NM_001371596.2(MFSD8):c.503C>T (p.Ser168Phe)
NM_001371596.2(MFSD8):c.511A>G (p.Asn171Asp)
NM_001371596.2(MFSD8):c.513C>A (p.Asn171Lys)
NM_001371596.2(MFSD8):c.514A>G (p.Ile172Val) rs540305093
NM_001371596.2(MFSD8):c.519C>T (p.Ser173=)
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser) rs2149008240
NM_001371596.2(MFSD8):c.541A>C (p.Ile181Leu) rs770057458
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) rs770057458
NM_001371596.2(MFSD8):c.553+3A>G
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu) rs1740277571
NM_001371596.2(MFSD8):c.554-17A>G
NM_001371596.2(MFSD8):c.562A>G (p.Thr188Ala) rs1739868697
NM_001371596.2(MFSD8):c.562A>T (p.Thr188Ser) rs1739868697
NM_001371596.2(MFSD8):c.563C>T (p.Thr188Ile)
NM_001371596.2(MFSD8):c.572C>T (p.Thr191Ile)
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His) rs914063167
NM_001371596.2(MFSD8):c.598T>C (p.Trp200Arg) rs2148907604
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_001371596.2(MFSD8):c.62+4A>C
NM_001371596.2(MFSD8):c.621A>G (p.Ile207Met)
NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala)
NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val) rs142063476
NM_001371596.2(MFSD8):c.662G>A (p.Gly221Glu) rs2148907334
NM_001371596.2(MFSD8):c.670A>C (p.Asn224His)
NM_001371596.2(MFSD8):c.674T>G (p.Ile225Ser)
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=) rs1739848967
NM_001371596.2(MFSD8):c.680T>C (p.Leu227Pro) rs2148907246
NM_001371596.2(MFSD8):c.695T>C (p.Leu232Pro)
NM_001371596.2(MFSD8):c.695T>G (p.Leu232Arg)
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_001371596.2(MFSD8):c.718T>C (p.Ser240Pro)
NM_001371596.2(MFSD8):c.724A>G (p.Arg242Gly)
NM_001371596.2(MFSD8):c.72C>A (p.Asp24Glu) rs775812921
NM_001371596.2(MFSD8):c.748G>C (p.Glu250Gln)
NM_001371596.2(MFSD8):c.753A>G (p.Glu251=)
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser) rs1739583922
NM_001371596.2(MFSD8):c.773A>T (p.Gln258Leu) rs2148882430
NM_001371596.2(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_001371596.2(MFSD8):c.782A>C (p.Gln261Pro)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser) rs773799172
NM_001371596.2(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser)
NM_001371596.2(MFSD8):c.820G>A (p.Val274Ile) rs745354809
NM_001371596.2(MFSD8):c.821T>C (p.Val274Ala)
NM_001371596.2(MFSD8):c.850G>T (p.Ala284Ser)
NM_001371596.2(MFSD8):c.863+2dup
NM_001371596.2(MFSD8):c.87A>G (p.Glu29=)
NM_001371596.2(MFSD8):c.885G>A (p.Met295Ile)
NM_001371596.2(MFSD8):c.887A>T (p.Asp296Val)
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu) rs1419909769
NM_001371596.2(MFSD8):c.889A>G (p.Met297Val)
NM_001371596.2(MFSD8):c.901A>G (p.Thr301Ala)
NM_001371596.2(MFSD8):c.902C>A (p.Thr301Asn)
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys) rs1737985759
NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser) rs1737983004
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_001371596.2(MFSD8):c.929G>C (p.Gly310Ala) rs118203975
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_001371596.2(MFSD8):c.944C>A (p.Ala315Asp) rs767331120
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro) rs1737976227
NM_001371596.2(MFSD8):c.995A>C (p.Lys332Thr) rs2148873265
NM_001371596.2(MFSD8):c.998+13T>C rs1737968072
NM_001371596.2(MFSD8):c.998+4A>G rs796052745
NM_001371596.2(MFSD8):c.999-4A>G
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312

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