ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 1

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Total variants: 21
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HGVS dbSNP
NC_000001.11:g.40097439C>T
NM_000310.3(PPT1):c.*1154T>C rs562172868
NM_000310.3(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.363-5C>T rs112553480
NM_000310.3(PPT1):c.513G>A (p.Ala171=) rs150924738
NM_000310.3(PPT1):c.543G>A (p.Val181=) rs374121503
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.798+8G>A rs368106574
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.4(PPT1):c.*1061C>T
NM_000310.4(PPT1):c.*901C>T
NM_000310.4(PPT1):c.628-10T>C rs557560550
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364

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