ClinVar Miner

List of variants in gene MFSD8 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.754+187A>T rs5861840 0.24682
NM_001371596.2(MFSD8):c.754+191T>A rs4134435 0.08468
NM_001371596.2(MFSD8):c.864-85A>C rs17012788 0.08106
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001371596.2(MFSD8):c.754+187del rs373402702 0.05678
NM_001371596.2(MFSD8):c.1350+110C>A rs76719935 0.05143
NM_001371596.2(MFSD8):c.754+169T>A rs137889791 0.04592
NM_001371596.2(MFSD8):c.754+183A>T rs867142185 0.03213
NM_001371596.2(MFSD8):c.199-124T>C rs113834381 0.02927
NM_001371596.2(MFSD8):c.1351-83G>C rs11941857 0.02855
NM_001371596.2(MFSD8):c.154+258C>T rs114115648 0.02849
NM_001371596.2(MFSD8):c.155-307T>C rs4431238 0.02673
NM_001371596.2(MFSD8):c.155-300T>C rs4426798 0.02668
NM_001371596.2(MFSD8):c.754+179A>T rs867449323 0.02188
NM_001371596.2(MFSD8):c.698+267G>A rs116482461 0.02109
NM_001371596.2(MFSD8):c.754+183del rs1417015917 0.01635
NM_001371596.2(MFSD8):c.440-148C>G rs115927158 0.01613
NM_001371596.2(MFSD8):c.754+183_754+187del rs1300840214 0.01576
NM_001371596.2(MFSD8):c.554-257C>T rs78978617 0.01572
NM_001371596.2(MFSD8):c.439+251G>A rs79076823 0.01468
NM_001371596.2(MFSD8):c.699-284T>C rs114816154 0.01209
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.863+338A>G rs190162771 0.01068
NM_001371596.2(MFSD8):c.755-106A>T rs149233621 0.00947
NM_001371596.2(MFSD8):c.755-115A>T rs113539975 0.00820
NM_001371596.2(MFSD8):c.554-102T>C rs76025550 0.00615
NM_001371596.2(MFSD8):c.*258A>C rs151190415 0.00610
NM_001371596.2(MFSD8):c.440-258G>A rs113530507 0.00601
NM_001371596.2(MFSD8):c.863+180G>T rs78135115 0.00566
NM_001371596.2(MFSD8):c.198+43T>G rs112513422 0.00481
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_001371596.2(MFSD8):c.154+226A>G rs181292781 0.00447
NM_001371596.2(MFSD8):c.154+115C>T rs116708442 0.00333
NM_001371596.2(MFSD8):c.198+36A>G rs77688773 0.00327
NM_001371596.2(MFSD8):c.155-217G>A rs114530192 0.00326
NM_001371596.2(MFSD8):c.864-45G>A rs72920238 0.00310
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.1287C>T (p.Gly429=) rs138072045 0.00073
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) rs147295085 0.00054
NM_152778.4(MFSD8):c.-55G>C rs568845783 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.677T>C (p.Ile226Thr) rs200591471 0.00019
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.934A>G (p.Ile312Val) rs77098161 0.00013
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.1102+13A>G rs371975482 0.00008
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu) rs528664888 0.00007
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=) rs201905099 0.00005
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.14G>C (p.Arg5Pro) rs139409959 0.00004
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) rs371882083 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_152778.4(MFSD8):c.-58T>C rs796052737 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.1444C>T (p.Arg482Ter) rs724159971 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.652G>A (p.Ala218Thr) rs368614789 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.1513A>C (p.Arg505=) rs776622815 0.00002
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys) rs796052748 0.00002
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val) rs578102641 0.00002
NM_001371596.2(MFSD8):c.439+16T>A rs1320386320 0.00002
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NM_001371596.2(MFSD8):c.-18C>T rs779186294 0.00001
NM_001371596.2(MFSD8):c.-21C>T rs200352565 0.00001
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=) rs141422574 0.00001
NM_001371596.2(MFSD8):c.1043G>C (p.Trp348Ser) rs796052746 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961 0.00001
NM_001371596.2(MFSD8):c.1393C>A (p.Arg465=) rs1043984708 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=) rs1473670776 0.00001
NM_001371596.2(MFSD8):c.154+2dup rs1422791271 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001371596.2(MFSD8):c.217dup (p.Thr73fs) rs796052752 0.00001
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=) rs754809138 0.00001
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) rs759795397 0.00001
NM_001371596.2(MFSD8):c.351C>T (p.Ala117=) rs1263648080 0.00001
NM_001371596.2(MFSD8):c.442A>G (p.Asn148Asp) rs796052742 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.706C>T (p.Arg236Cys) rs758002981 0.00001
NM_001371596.2(MFSD8):c.755-6C>T rs752118814 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.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.999-12G>A rs766315917 0.00001
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_001371596.2(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_001371596.2(MFSD8):c.1061dup (p.Leu354fs) rs886041806
NM_001371596.2(MFSD8):c.1102+14T>C rs765323039
NM_001371596.2(MFSD8):c.1102+2T>C
NM_001371596.2(MFSD8):c.1103-10_1103-6del rs1212979817
NM_001371596.2(MFSD8):c.1130C>A (p.Thr377Asn)
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.1180G>A (p.Asp394Asn) rs768627011
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=) rs1057520928
NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=) rs796052738
NM_001371596.2(MFSD8):c.1351-2A>G rs1057518388
NM_001371596.2(MFSD8):c.1351-3C>T rs1553943564
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=) rs1553943451
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=) rs2148836761
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) rs587781037
NM_001371596.2(MFSD8):c.154+19T>C rs1057521818
NM_001371596.2(MFSD8):c.155-174A>G rs147768072
NM_001371596.2(MFSD8):c.155-34A>T rs182059984
NM_001371596.2(MFSD8):c.211G>A (p.Ala71Thr) rs796052741
NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter) rs1300341137
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_001371596.2(MFSD8):c.534A>T (p.Leu178Phe)
NM_001371596.2(MFSD8):c.553+128dup rs199616927
NM_001371596.2(MFSD8):c.553+151C>G rs59117993
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001371596.2(MFSD8):c.554-9C>G rs372107576
NM_001371596.2(MFSD8):c.590G>T (p.Gly197Val) rs28544073
NM_001371596.2(MFSD8):c.590del (p.Gly197fs) rs776253867
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter) rs558274487
NM_001371596.2(MFSD8):c.59G>A (p.Ser20Asn)
NM_001371596.2(MFSD8):c.63-16del rs749859985
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.697A>G (p.Arg233Gly)
NM_001371596.2(MFSD8):c.754+147ATTT[10] rs376661613
NM_001371596.2(MFSD8):c.754+169_754+174del rs1337853193
NM_001371596.2(MFSD8):c.754+173T>A rs150490445
NM_001371596.2(MFSD8):c.754+177T>A rs5011745
NM_001371596.2(MFSD8):c.754+181_754+186del rs1309104033
NM_001371596.2(MFSD8):c.754+183_754+185del rs1397987346
NM_001371596.2(MFSD8):c.754+183_754+188del rs1479651311
NM_001371596.2(MFSD8):c.754+183_754+189del rs771374133
NM_001371596.2(MFSD8):c.754+187_754+191del rs1336602865
NM_001371596.2(MFSD8):c.754+197_754+200dup rs1174151589
NM_001371596.2(MFSD8):c.754+198_754+200del rs1174151589
NM_001371596.2(MFSD8):c.754+199_754+200del rs1174151589
NM_001371596.2(MFSD8):c.754+200del rs1174151589
NM_001371596.2(MFSD8):c.754+200dup rs1174151589
NM_001371596.2(MFSD8):c.755-4A>G rs766510873
NM_001371596.2(MFSD8):c.761C>T (p.Thr254Ile) rs2148882488
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu) rs1419909769
NM_001371596.2(MFSD8):c.895G>T (p.Ala299Ser) rs796052750
NM_001371596.2(MFSD8):c.940G>T (p.Ala314Ser) rs796052744
NM_001371596.2(MFSD8):c.998+4A>G rs796052745
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) rs1057520312
NM_152778.4(MFSD8):c.-58T>A rs796052737
NM_152778.4(MFSD8):c.-68C>T rs1057522504
NM_152778.4(MFSD8):c.-75-2A>T rs796052739
NM_152778.4(MFSD8):c.-75-2_-75-1inv

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