ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 5

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ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.*721G>A rs145949751 0.00286
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.*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.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935 0.00021
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.-83G>T rs576642281 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_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 0.00006
NM_006493.4(CLN5):c.152G>A (p.Arg51His) rs367952803 0.00006
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) rs368428437 0.00006
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.116C>G (p.Ser39Trp) rs61504484 0.00003
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839 0.00003
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.-123C>T rs767048749 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys) rs775102823 0.00003
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr) rs148544801 0.00003
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr) rs796052344 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.4(CLN5):c.*1169T>C rs573398552 0.00002
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 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.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) rs563306322 0.00001
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) rs1464891081 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)
NM_006493.4(CLN5):c.*163G>A rs994401189
NM_006493.4(CLN5):c.*263A>T rs562972188
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-98G>T rs769990158
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro) rs776490903
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) rs1409904698
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
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
NM_006493.4(CLN5):c.89T>C (p.Leu30Pro) rs2034189535
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) rs1555274374
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425

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