ClinVar Miner

List of variants in gene CLN5 reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
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.565+3_565+4dup rs745312608 0.00019
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) rs541501705 0.00015
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.-47C>G rs937545860 0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 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_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 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.-123C>T rs767048749 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.-14C>T rs768714949 0.00003
NM_006493.4(CLN5):c.-78G>T rs540811599 0.00003
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00003
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly) rs1048147140 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.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_006493.4(CLN5):c.960G>C (p.Gln320His) rs1455002686 0.00003
NM_006493.4(CLN5):c.-84C>A rs558597827 0.00002
NM_006493.4(CLN5):c.339+5G>C rs202146713 0.00002
NM_006493.4(CLN5):c.339+6G>A rs1468101 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.892C>T (p.His298Tyr) rs557876713 0.00002
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr) rs182060681 0.00002
NC_000013.11:g.76992031C>A rs1168645936 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006493.4(CLN5):c.-11G>C rs774598730 0.00001
NM_006493.4(CLN5):c.-74T>C rs1182554801 0.00001
NM_006493.4(CLN5):c.-86C>T rs988786332 0.00001
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) rs1064795659 0.00001
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly) rs759063887 0.00001
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) rs750283603 0.00001
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg) rs1230755416 0.00001
NM_006493.4(CLN5):c.296C>T (p.Ala99Val) rs143759121 0.00001
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala) rs368672718 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.467C>T (p.Pro156Leu) rs780802058 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) rs1420822940 0.00001
NM_006493.4(CLN5):c.565+6T>C rs758229107 0.00001
NM_006493.4(CLN5):c.637A>C (p.Asn213His) rs140122775 0.00001
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys) rs1312706135 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr) rs200419110 0.00001
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr) rs1439976492 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) rs376675270 0.00001
NM_006493.4(CLN5):c.784T>C (p.Tyr262His) rs1262072010 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
NC_000013.10:g.(?_77566087)_(77575104_?)dup
NC_000013.11:g.(?_76991932)_(77000989_?)dup
NC_000013.11:g.76991974G>C rs1037355085
NC_000013.11:g.76991982T>C rs755587208
NC_000013.11:g.76991986G>A rs1465531119
NC_000013.11:g.76992025T>A rs1182554801
NC_000013.11:g.76992027G>C rs2154034205
NC_000013.11:g.76992036C>T rs2154034208
NC_000013.11:g.76992041G>A rs2154034210
NC_000013.11:g.76992063G>A rs1351624850
NC_000013.11:g.76992066T>A rs1223625391
NC_000013.11:g.76992066T>G rs1223625391
NC_000013.11:g.76992067C>T rs61504484
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln)
NM_006493.2(CLN5):c.104C>T (p.Ala35Val)
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter)
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu)
NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr) rs1336864663
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu) rs1391354551
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)
NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu) rs1259746826
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu) rs769990158
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg) rs1287993760
NM_006493.2(CLN5):c.54A>C (p.Gln18His)
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys) rs558597827
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser)
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp) rs762873839
NM_006493.4(CLN5):c.-11G>A rs774598730
NM_006493.4(CLN5):c.-23C>T rs949213778
NM_006493.4(CLN5):c.-75C>G rs754544785
NM_006493.4(CLN5):c.-86C>G rs988786332
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-96C>G rs773979248
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-99G>A rs202118652
NM_006493.4(CLN5):c.1000A>G (p.Met334Val) rs747998609
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala)
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val)
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr)
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Pro347_Leu348=)
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly) rs2154035217
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu)
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) rs1555274416
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala)
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp)
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser) rs765773686
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu) rs753197537
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu)
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser) rs541501705
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu) rs2154034626
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly)
NM_006493.4(CLN5):c.215C>T (p.Ala72Val) rs2154034628
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser) rs2034242824
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile)
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser)
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr)
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser) rs2034243356
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) rs898862493
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp) rs2154034642
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu)
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe) rs2154034643
NM_006493.4(CLN5):c.335A>T (p.His112Leu)
NM_006493.4(CLN5):c.336C>G (p.His112Gln) rs2034245418
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe) rs147214555
NM_006493.4(CLN5):c.347T>C (p.Met116Thr) rs2154034705
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) rs1231886495
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
NM_006493.4(CLN5):c.391T>C (p.Tyr131His)
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile) rs1305273453
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro)
NM_006493.4(CLN5):c.442C>T (p.His148Tyr) rs752563013
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln) rs1014000261
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser) rs777080820
NM_006493.4(CLN5):c.460G>C (p.Asp154His)
NM_006493.4(CLN5):c.464C>T (p.Ala155Val) rs2154034734
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly)
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp) rs2034263363
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) rs1064795474
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu)
NM_006493.4(CLN5):c.573G>A (p.Met191Ile) rs2034339154
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) rs1555274325
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) rs2034339472
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys) rs1555274338
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu) rs1593914834
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)
NM_006493.4(CLN5):c.745T>G (p.Phe249Val)
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp)
NM_006493.4(CLN5):c.756A>G (p.Ile252Met)
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln) rs1232560552
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) rs376675270
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile)
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg)
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe)
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr)
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn) rs1298505272
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu)
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu) rs2154035192
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser)
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu) rs202171514
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu)
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg)
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968

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