ClinVar Miner

List of variants in gene CLN6 studied for not provided

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.199-252A>C rs6494721 0.99323
NM_017882.3(CLN6):c.198+104T>C rs8025947 0.57324
NM_017882.3(CLN6):c.83+188T>C rs55954678 0.56414
NM_017882.3(CLN6):c.665+265G>A rs11632516 0.46738
NM_017882.3(CLN6):c.*38A>G rs757788122 0.18759
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NC_000015.10:g.68229772A>G rs541466473 0.12925
NM_017882.3(CLN6):c.298-196A>G rs61281446 0.07222
NM_017882.3(CLN6):c.298-248G>A rs59951468 0.07221
NM_017882.3(CLN6):c.486+51C>T rs8024979 0.07213
NM_017882.3(CLN6):c.83+35C>G rs150630197 0.05957
NM_017882.3(CLN6):c.198+181A>G rs59385667 0.03723
NM_017882.3(CLN6):c.297+158C>T rs11638475 0.02178
NC_000015.10:g.68229762A>G rs375902554 0.01863
NM_017882.3(CLN6):c.298-168C>T rs56883694 0.01346
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.542+165C>T rs17317039 0.01189
NM_017882.3(CLN6):c.543-303G>A rs148243823 0.01154
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.542+212C>T rs111504155 0.00812
NM_017882.3(CLN6):c.*30T>G rs758756489 0.00700
NM_017882.3(CLN6):c.84-81C>T rs117298614 0.00698
NM_017882.3(CLN6):c.199-84C>T rs7182333 0.00619
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_017882.3(CLN6):c.487-39C>T rs116956347 0.00549
NM_017882.3(CLN6):c.*393G>A rs114833125 0.00546
NM_017882.3(CLN6):c.83+218G>T rs541105748 0.00509
NM_017882.3(CLN6):c.199-70G>A rs114850355 0.00479
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.487-140G>A rs74020079 0.00436
NM_017882.3(CLN6):c.542+33G>A rs548821903 0.00342
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00019
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032 0.00010
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.666-45C>T rs201306069 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) rs143928329 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) rs141950483 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 0.00002
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) rs547002745 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) rs760271120 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NC_000015.10:g.68229774_68229793dup rs71145145
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC rs55672378
NM_017882.3(CLN6):c.*141GT[11] rs3837692
NM_017882.3(CLN6):c.*141GT[12] rs3837692
NM_017882.3(CLN6):c.*141GT[13] rs3837692
NM_017882.3(CLN6):c.*141GT[14] rs3837692
NM_017882.3(CLN6):c.*141GT[8] rs3837692
NM_017882.3(CLN6):c.*141GT[9] rs3837692
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg)
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter) rs2141145074
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter) rs1057520571
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.198+1G>A rs886039727
NM_017882.3(CLN6):c.1_11del (p.Met1fs)
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) rs154774641
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.298-346G>T
NM_017882.3(CLN6):c.310T>C (p.Ser104Pro)
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) rs1555438696
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.397_398del (p.Val133fs) rs766493088
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.486+2T>C rs796052355
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.622G>C (p.Gly208Arg) rs2141137242
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) rs886042709
NM_017882.3(CLN6):c.640G>T (p.Val214Leu) rs765491294
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter) rs374271754
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser) rs1057520095
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu)
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) rs2141136125
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) rs154774637
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) rs950362413
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.797T>C (p.Phe266Ser) rs1064796180
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) rs796052359
NM_017882.3(CLN6):c.83+188_83+191del rs66812362
NM_017882.3(CLN6):c.83+225del rs577777835
NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)
NM_017882.3(CLN6):c.866A>G (p.Lys289Arg)
NM_017882.3(CLN6):c.875G>A (p.Gly292Asp) rs1399309224
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) rs1064796587

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