ClinVar Miner

List of variants in gene MFSD8 studied for Late-infantile neuronal ceroid lipofuscinosis

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
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.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile) rs1414250428 0.00016
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) rs77098161 0.00013
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.409G>A (p.Val137Ile) rs146479250 0.00006
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val) rs375681665 0.00006
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045 0.00004
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.961G>A (p.Val321Ile) rs76506918 0.00004
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) rs771879274 0.00003
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 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.754+2T>A rs587778809 0.00003
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320 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.864-1G>A rs571950296 0.00002
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val) rs753930474 0.00002
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His) rs200386040 0.00001
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile) rs746209973 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala) rs1331862351 0.00001
NM_001371596.2(MFSD8):c.1043G>C (p.Trp348Ser) rs796052746 0.00001
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys) rs758114648 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn) rs140349255 0.00001
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961 0.00001
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met) rs910297451 0.00001
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys) rs1421635169 0.00001
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val) rs758095101 0.00001
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu) rs1408300356 0.00001
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=) rs753433200 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.309A>T (p.Arg103Ser) rs148916499 0.00001
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu) rs749496400 0.00001
NM_001371596.2(MFSD8):c.386C>T (p.Ser129Phe) rs769677706 0.00001
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr) rs1227703492 0.00001
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) rs1243416801 0.00001
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr) rs1355954321 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.778C>T (p.Pro260Ser) rs1174831833 0.00001
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) rs796052743 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) rs570989221 0.00001
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312 0.00001
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
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.1278A>G (p.Ile426Met) rs769272117
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.1351-2A>G rs1057518388
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys) rs1355810376
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln) rs139409959
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe) rs150892838
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser) rs1740590363
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) rs770057458
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser) rs773799172
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser) rs1737983004

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