ClinVar Miner

List of variants reported as likely pathogenic for Ceroid lipofuscinosis neuronal 1 by Counsyl

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Total variants: 36
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HGVS dbSNP
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.124+2T>A rs1057517368
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.3(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.3(PPT1):c.281_282del (p.Thr94fs) rs1553167479
NM_000310.3(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.3(PPT1):c.338del (p.Gly113fs) rs1553167474
NM_000310.3(PPT1):c.362+1G>A rs1057517401
NM_000310.3(PPT1):c.363-2A>G rs1553167430
NM_000310.3(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.433+1G>A rs1553167415
NM_000310.3(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) 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.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.3(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.3(PPT1):c.776dup (p.Glu260fs) rs1349528345
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+2T>C rs1553166337
NM_000310.3(PPT1):c.799-2A>G rs1553166147
NM_000310.3(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) rs386833649

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