ClinVar Miner

List of variants in gene MFSD8 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
MFSD8, 2-BP DEL/2-BP INS
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NM_152778.2(MFSD8):c.155-9delT rs1060504501
NM_152778.2(MFSD8):c.63-4delC rs755011754
NM_152778.2(MFSD8):c.864-6dup rs200526922
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1036G>A (p.Val346Ile)
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)
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>T (p.Ile39Phe) rs201739608
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.1278A>G (p.Ile426Met)
NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
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.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)
NM_152778.3(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.3(MFSD8):c.1475T>C (p.Ile492Thr)
NM_152778.3(MFSD8):c.151G>T (p.Val51Leu) rs1408300356
NM_152778.3(MFSD8):c.1521T>G (p.Ile507Met)
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.173T>C (p.Met58Thr)
NM_152778.3(MFSD8):c.18C>G (p.Asn6Lys)
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)
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter)
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.291G>C (p.Trp97Cys) rs796052749
NM_152778.3(MFSD8):c.316C>T (p.Pro106Ser) rs757793193
NM_152778.3(MFSD8):c.32A>G (p.Glu11Gly)
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>T (p.Leu13Phe)
NM_152778.3(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330
NM_152778.3(MFSD8):c.409G>A (p.Val137Ile)
NM_152778.3(MFSD8):c.416G>A (p.Arg139His) rs749704755
NM_152778.3(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.3(MFSD8):c.436G>A (p.Ala146Thr)
NM_152778.3(MFSD8):c.440-2A>T rs751696703
NM_152778.3(MFSD8):c.525T>A (p.Cys175Ter)
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)
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.5C>T (p.Ala2Val) rs867524398
NM_152778.3(MFSD8):c.63-4C>T rs764964269
NM_152778.3(MFSD8):c.63A>C (p.Arg21Ser)
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
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
NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys) rs758002981
NM_152778.3(MFSD8):c.707G>A (p.Arg236His)
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.831dup (p.Val278fs)
NM_152778.3(MFSD8):c.832G>A (p.Val278Met) rs796052743
NM_152778.3(MFSD8):c.840A>G (p.Leu280=) rs199982542
NM_152778.3(MFSD8):c.863+1G>A rs200319160
NM_152778.3(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) rs755384900
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.998+4A>G rs796052745
NM_152778.3(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312

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