ClinVar Miner

List of variants reported as benign for Neuronal ceroid lipofuscinosis 7 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 14
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HGVS dbSNP
NM_001371596.2(MFSD8):c.*2464C>T
NM_001371596.2(MFSD8):c.*427G>C
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.-100G>C rs74561222
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.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

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