ClinVar Miner

List of variants in gene MFSD8 reported as benign for Neuronal ceroid lipofuscinosis 7

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Gene type:
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Total variants: 20
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NM_001371596.2(MFSD8):c.864-6del rs200526922
NM_152778.3(MFSD8):c.*1515T>A rs74590222
NM_152778.3(MFSD8):c.*1794G>T rs79783621
NM_152778.3(MFSD8):c.*2405G>A rs11938181
NM_152778.3(MFSD8):c.*2465A>G rs72616968
NM_152778.3(MFSD8):c.*533G>A rs11940642
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) rs138072045
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1351-9C>A rs75039907
NM_152778.3(MFSD8):c.1351-9C>T rs75039907
NM_152778.3(MFSD8):c.199-8T>C rs112721309
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) rs145529594
NM_152778.3(MFSD8):c.864-15dup rs200526922

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