ClinVar Miner

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

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 0.00003
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter) rs796052925 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NC_000001.10:g.(?_40542494)_(40562910_?)del
NC_000001.10:g.(?_40555072)_(40558194_?)del
NC_000001.10:g.(?_40557947)_40561572del
NC_000001.10:g.(?_40558060)_(40561460_?)del
NC_000001.10:g.(?_40561110)_(40562920_?)del
NC_000001.11:g.(?_40089400)_(40097248_?)del
NM_000310.4(PPT1):c.102del (p.Leu35fs) rs1649901192
NM_000310.4(PPT1):c.112del (p.Trp38fs)
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.125-2A>T
NM_000310.4(PPT1):c.134G>A (p.Cys45Tyr) rs137852702
NM_000310.4(PPT1):c.169del (p.Met57fs)
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.4(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.4(PPT1):c.1A>C (p.Met1Leu)
NM_000310.4(PPT1):c.21_25dup (p.Leu9fs)
NM_000310.4(PPT1):c.234+1G>A rs796052923
NM_000310.4(PPT1):c.263del (p.Val88fs) rs2124487925
NM_000310.4(PPT1):c.289_290del (p.Gln97fs) rs1649597261
NM_000310.4(PPT1):c.290del (p.Gln97fs)
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.4(PPT1):c.29_41del (p.Leu10fs) rs762226836
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.4(PPT1):c.2T>A (p.Met1Lys) rs796052927
NM_000310.4(PPT1):c.30_42dup (p.Leu15fs)
NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)
NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)
NM_000310.4(PPT1):c.335_336del (p.Met112fs) rs1570470281
NM_000310.4(PPT1):c.343_344dup (p.Gln116fs) rs2124487750
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.432del (p.Gly145fs)
NM_000310.4(PPT1):c.433+1G>A rs1553167415
NM_000310.4(PPT1):c.440_441del (p.Phe147fs)
NM_000310.4(PPT1):c.455del (p.Cys152fs) rs886041568
NM_000310.4(PPT1):c.480_481del (p.Cys160_Asp161delinsTer)
NM_000310.4(PPT1):c.51G>A (p.Trp17Ter) rs2124494531
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.4(PPT1):c.532del (p.Glu178fs) rs878853325
NM_000310.4(PPT1):c.541G>C (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.607del (p.Ala203fs)
NM_000310.4(PPT1):c.614_620del (p.Ile205fs) rs2124474476
NM_000310.4(PPT1):c.628-2A>G rs2124472385
NM_000310.4(PPT1):c.628-2A>T
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)
NM_000310.4(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.712_713del (p.Pro238fs) rs2124472229
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000310.4(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.4(PPT1):c.722C>A (p.Ser241Ter)
NM_000310.4(PPT1):c.727-1G>A rs1648659458
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.728G>A (p.Trp243Ter) rs1477443863
NM_000310.4(PPT1):c.72_73delinsTT (p.Gln25Ter)
NM_000310.4(PPT1):c.741C>A (p.Tyr247Ter) rs2124470378
NM_000310.4(PPT1):c.775C>T (p.Gln259Ter)
NM_000310.4(PPT1):c.798+1G>T rs878853929
NM_000310.4(PPT1):c.798+2T>C rs1553166337
NM_000310.4(PPT1):c.820del (p.Met274fs)

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