ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 5 by Illumina Laboratory Services, Illumina

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.*1279G>C rs9635010 0.04936
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.*1132A>G rs80200123 0.01375
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.*180C>T rs700364 0.00556
NM_006493.4(CLN5):c.*1159G>A rs75441116 0.00513
NM_006493.4(CLN5):c.*721G>A rs145949751 0.00286
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.*975G>A rs539756080 0.00118
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.*310T>C rs553934239 0.00064
NM_006493.4(CLN5):c.*468G>C rs752211672 0.00060
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_006493.4(CLN5):c.*963T>G rs569028453 0.00017
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_006493.2(CLN5):c.-8G>A rs772316134 0.00004
NM_006493.4(CLN5):c.*636A>G rs755618302 0.00004
NM_006493.4(CLN5):c.*954T>C rs886050317 0.00004
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839 0.00003
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.*1169T>C rs573398552 0.00002
NM_006493.4(CLN5):c.*1490A>G rs771432165 0.00001
NM_006493.4(CLN5):c.*177A>C rs568174799 0.00001
NM_006493.4(CLN5):c.*609A>G rs1307852062 0.00001
NM_006493.4(CLN5):c.*614C>T rs1415756616 0.00001
NM_006493.4(CLN5):c.*833C>T rs926933589 0.00001
NM_006493.4(CLN5):c.-8G>A rs761576461 0.00001
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715 0.00001
NM_006493.4(CLN5):c.*163G>A rs994401189
NM_006493.4(CLN5):c.*263A>T rs562972188
NM_006493.4(CLN5):c.*269G>A rs137867457
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro) rs776490903
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg) rs2034345372
NM_006493.4(CLN5):c.864A>G (p.Ile288Met) rs1375890703

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