ClinVar Miner

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

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Total variants: 8
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NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.4(PPT1):c.218G>C (p.Gly73Ala)
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637

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