ClinVar Miner

List of variants in gene PPT1 reported as benign for Neuronal ceroid lipofuscinosis 1

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Total variants: 16
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HGVS dbSNP
NM_000310.3(PPT1):c.*1275G>A rs12061777
NM_000310.3(PPT1):c.*161T>C rs11552578
NM_000310.3(PPT1):c.*285T>G rs1126970
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*456A>G rs76250039
NM_000310.3(PPT1):c.*505C>G rs1126972
NM_000310.3(PPT1):c.*657G>A rs1126973
NM_000310.3(PPT1):c.*878T>C rs74638149
NM_000310.3(PPT1):c.-109C>A rs41301070
NM_000310.3(PPT1):c.-83A>G rs6600313
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000310.4(PPT1):c.537-16dup rs760997725

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