ClinVar Miner

List of variants in gene MFSD8 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.754+183A>T rs867142185 0.03213
NM_001371596.2(MFSD8):c.754+183del rs1417015917 0.01635
NM_001371596.2(MFSD8):c.754+183_754+187del rs1300840214 0.01576
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.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.199-11T>C rs750871697 0.00015
NM_001371596.2(MFSD8):c.864-5C>T rs1560732781 0.00013
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu) rs528664888 0.00007
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=) rs138219028 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.1068T>C (p.Pro356=) rs376258320 0.00002
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=) rs141422574 0.00001
NM_001371596.2(MFSD8):c.1393C>A (p.Arg465=) rs1043984708 0.00001
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=) rs1473670776 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=) rs754809138 0.00001
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) rs1243416801 0.00001
NM_001371596.2(MFSD8):c.755-6C>T rs752118814 0.00001
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_001371596.2(MFSD8):c.1103-10_1103-6del rs1212979817
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=) rs1057520928
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=) rs2148836761
NM_001371596.2(MFSD8):c.155-174A>G rs147768072
NM_001371596.2(MFSD8):c.155-34A>T rs182059984
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001371596.2(MFSD8):c.754+181_754+186del rs1309104033
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+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.864-6dup rs200526922

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