ClinVar Miner

List of variants in gene MFSD8 reported as benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001371596.2(MFSD8):c.*533G>A rs11940642 0.08086
NM_001371596.2(MFSD8):c.*2405G>A rs11938181 0.02850
NM_001371596.2(MFSD8):c.*2465A>G rs72616968 0.02684
NM_001371596.2(MFSD8):c.*1794G>T rs79783621 0.01573
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.*2464C>T rs114689638 0.00731
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.*427G>C rs142139835 0.00226
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_001371596.2(MFSD8):c.*1515T>A rs74590222 0.00075
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.864-16A>T rs202196597 0.00016
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_001371596.2(MFSD8):c.1103-11del
NM_001371596.2(MFSD8):c.1351-6del rs777941105
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.63-16del rs749859985
NM_001371596.2(MFSD8):c.63-16dup
NM_001371596.2(MFSD8):c.699-4del rs2148902873
NM_001371596.2(MFSD8):c.864-6del rs200526922
NM_001371596.2(MFSD8):c.864-6dup rs200526922
NM_001371596.2(MFSD8):c.864-8_864-6del rs200526922

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