ClinVar Miner

List of variants in gene MFSD8 studied for Neuronal ceroid lipofuscinosis 7

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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.12:g.(?_127920610)_(127957612_?)del
NC_000004.12:g.(?_127920610)_(127965153_?)dup
NC_000004.12:g.(?_127930663)_(127933113_?)del
NC_000004.12:g.(?_127930663)_(127965153_?)del
NC_000004.12:g.(?_127932965)_(127933113_?)del
NC_000004.12:g.(?_127957491)_(127957602_?)dup
NC_000004.12:g.(?_127965052)_(127965153_?)del
NC_000004.12:g.(?_127965062)_(127965143_?)del
NM_001371596.2(MFSD8):c.*1147G>A
NM_001371596.2(MFSD8):c.*1280T>A
NM_001371596.2(MFSD8):c.*1455G>A
NM_001371596.2(MFSD8):c.*1680A>G
NM_001371596.2(MFSD8):c.*1709G>C
NM_001371596.2(MFSD8):c.*1918T>C
NM_001371596.2(MFSD8):c.*1969G>C
NM_001371596.2(MFSD8):c.*2006A>C
NM_001371596.2(MFSD8):c.*2010T>C
NM_001371596.2(MFSD8):c.*2021C>T
NM_001371596.2(MFSD8):c.*2104T>C
NM_001371596.2(MFSD8):c.*2146A>G
NM_001371596.2(MFSD8):c.*2294G>A
NM_001371596.2(MFSD8):c.*2309G>A
NM_001371596.2(MFSD8):c.*2314G>A
NM_001371596.2(MFSD8):c.*2369C>G
NM_001371596.2(MFSD8):c.*2464C>T
NM_001371596.2(MFSD8):c.*250G>A
NM_001371596.2(MFSD8):c.*2592A>G
NM_001371596.2(MFSD8):c.*369G>A
NM_001371596.2(MFSD8):c.*427G>C
NM_001371596.2(MFSD8):c.*675T>C
NM_001371596.2(MFSD8):c.*734A>G
NM_001371596.2(MFSD8):c.*842T>G
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.1103-2del
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val)
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) rs778875017
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu)
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr)
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His)
NM_001371596.2(MFSD8):c.199-1G>C
NM_001371596.2(MFSD8):c.199-2A>G rs1578912759
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr)
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu)
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser)
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser)
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val)
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr)
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser)
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu)
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter)
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) rs1578889355
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038
NM_001371596.2(MFSD8):c.63-652_74del
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)
NM_001371596.2(MFSD8):c.699-1G>C
NM_001371596.2(MFSD8):c.754+1G>A
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser)
NM_001371596.2(MFSD8):c.755-6C>T rs752118814
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala)
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val)
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.863+1G>T
NM_001371596.2(MFSD8):c.864-6del rs200526922
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro)
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile)
NM_001371596.2(MFSD8):c.998+13T>C
NM_001371596.2:c.468_469delinsCC
NM_152778.3(MFSD8):c.*1058A>G rs531103173
NM_152778.3(MFSD8):c.*1161A>C rs767418097
NM_152778.3(MFSD8):c.*1471T>C rs886059066
NM_152778.3(MFSD8):c.*1515T>A rs74590222
NM_152778.3(MFSD8):c.*1603C>T rs536079775
NM_152778.3(MFSD8):c.*1794G>T rs79783621
NM_152778.3(MFSD8):c.*208C>T rs886059069
NM_152778.3(MFSD8):c.*2214A>G rs886059065
NM_152778.3(MFSD8):c.*2270G>C rs886059064
NM_152778.3(MFSD8):c.*2405G>A rs11938181
NM_152778.3(MFSD8):c.*2465A>G rs72616968
NM_152778.3(MFSD8):c.*258A>C rs151190415
NM_152778.3(MFSD8):c.*2613T>C rs539367239
NM_152778.3(MFSD8):c.*2683C>T rs886059063
NM_152778.3(MFSD8):c.*2689T>C rs189321020
NM_152778.3(MFSD8):c.*414C>A rs566768714
NM_152778.3(MFSD8):c.*463A>T rs181696565
NM_152778.3(MFSD8):c.*492A>T rs534206104
NM_152778.3(MFSD8):c.*533G>A rs11940642
NM_152778.3(MFSD8):c.*695A>G rs886059068
NM_152778.3(MFSD8):c.*839C>A rs886059067
NM_152778.3(MFSD8):c.1006G>A (p.Glu336Lys) rs150418024
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_152778.3(MFSD8):c.1036G>A (p.Val346Ile) rs746209973
NM_152778.3(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_152778.3(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_152778.3(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013
NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_152778.3(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852
NM_152778.3(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038
NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.115A>G (p.Ile39Val) rs201739608
NM_152778.3(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_152778.3(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.1278A>G (p.Ile426Met) rs769272117
NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) rs138072045
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1320A>G (p.Leu440=) rs148864710
NM_152778.3(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763
NM_152778.3(MFSD8):c.1351-9C>A rs75039907
NM_152778.3(MFSD8):c.1351-9C>T rs75039907
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_152778.3(MFSD8):c.1403G>A (p.Gly468Glu) rs1560715852
NM_152778.3(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_152778.3(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.1445G>A (p.Arg482Gln) rs547726489
NM_152778.3(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.3(MFSD8):c.1475T>C (p.Ile492Thr) rs183448311
NM_152778.3(MFSD8):c.151G>T (p.Val51Leu) rs1408300356
NM_152778.3(MFSD8):c.1521T>G (p.Ile507Met) rs779560159
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.173T>C (p.Met58Thr) rs1578944380
NM_152778.3(MFSD8):c.18C>G (p.Asn6Lys) rs771879274
NM_152778.3(MFSD8):c.199-8T>C rs112721309
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.218C>T (p.Thr73Ile) rs377555060
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter) rs1578912362
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.270T>A (p.Ala90=) rs754809138
NM_152778.3(MFSD8):c.288A>G (p.Leu96=) rs1008821019
NM_152778.3(MFSD8):c.291G>C (p.Trp97Cys) rs796052749
NM_152778.3(MFSD8):c.316C>T (p.Pro106Ser) rs757793193
NM_152778.3(MFSD8):c.32A>G (p.Glu11Gly) rs1485138561
NM_152778.3(MFSD8):c.342C>T (p.Ser114=) rs201905099
NM_152778.3(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_152778.3(MFSD8):c.37C>G (p.Leu13Val) rs150892838
NM_152778.3(MFSD8):c.37C>T (p.Leu13Phe) rs150892838
NM_152778.3(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330
NM_152778.3(MFSD8):c.409G>A (p.Val137Ile) rs146479250
NM_152778.3(MFSD8):c.416G>A (p.Arg139His) rs749704755
NM_152778.3(MFSD8):c.421T>C (p.Leu141=) rs778330834
NM_152778.3(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.3(MFSD8):c.436G>A (p.Ala146Thr) rs755152088
NM_152778.3(MFSD8):c.440-2A>T rs751696703
NM_152778.3(MFSD8):c.525T>A (p.Cys175Ter) rs556661896
NM_152778.3(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.3(MFSD8):c.576C>G (p.Phe192Leu) rs777020801
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.592G>A (p.Val198Met) rs377029630
NM_152778.3(MFSD8):c.63-4del rs755011754
NM_152778.3(MFSD8):c.63A>C (p.Arg21Ser) rs201926015
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_152778.3(MFSD8):c.652G>A (p.Ala218Thr) rs368614789
NM_152778.3(MFSD8):c.656T>C (p.Phe219Ser) rs112734134
NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) rs145529594
NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_152778.3(MFSD8):c.689C>T (p.Ala230Val) rs375681665
NM_152778.3(MFSD8):c.699-5T>G rs751010275
NM_152778.3(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys) rs758002981
NM_152778.3(MFSD8):c.707G>A (p.Arg236His) rs371250204
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_152778.3(MFSD8):c.78A>G (p.Leu26=) rs770986122
NM_152778.3(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_152778.3(MFSD8):c.813C>T (p.Ala271=) rs768499490
NM_152778.3(MFSD8):c.832G>A (p.Val278Met) rs796052743
NM_152778.3(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.3(MFSD8):c.864-15dup rs200526922
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.886G>A (p.Asp296Asn) rs147295085
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_152778.3(MFSD8):c.934A>G (p.Ile312Val) rs77098161
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_152778.3(MFSD8):c.961G>A (p.Val321Ile) rs76506918
NM_152778.3(MFSD8):c.975A>G (p.Leu325=) rs570989221
NM_152778.3(MFSD8):c.978A>G (p.Gly326=) rs138219028
NM_152778.3(MFSD8):c.998+4A>G rs796052745
NM_152778.3(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312

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