ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NC_000001.11:g.(?_40089400)_(40097248_?)del
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.234+1G>A rs796052923
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.102del (p.Leu35fs)
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.727-1G>A
NM_001142604.2(PPT1):c.125-2560_125-2559del rs1570470281

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