ClinVar Miner

List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 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_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) rs1405952769
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.215del (p.Asp72fs)
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) rs2141136108

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