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

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Total variants: 17

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HGVS	dbSNP
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.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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