ClinVar Miner

List of variants in gene MFSD8 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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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.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.440-148C>G rs115927158 0.01613
NM_001371596.2(MFSD8):c.554-257C>T rs78978617 0.01572
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.1287C>T (p.Gly429=) rs138072045 0.00073
NM_152778.4(MFSD8):c.-55G>C rs568845783 0.00054
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.155-15T>C rs374019724 0.00015
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) rs587781037
NM_001371596.2(MFSD8):c.553+128dup rs199616927
NM_001371596.2(MFSD8):c.553+151C>G rs59117993
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+183_754+185del rs1397987346
NM_001371596.2(MFSD8):c.754+198_754+200del rs1174151589

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