List of variants reported as benign for Neuronal ceroid lipofuscinosis 7

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Total variants: 29

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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_001358451.3(ABHD18):c.-18+315C>G	rs74561222	0.01575
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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