ClinVar Miner

List of variants in gene CLN6

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Gene type:
ClinVar version:
Total variants: 420
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HGVS dbSNP
NC_000015.10:g.(?_68208120)_(68229604_?)del
NC_000015.10:g.(?_68229482)_(68229604_?)del
NC_000015.10:g.(?_68229492)_(68229594_?)del
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.*1157A>G rs8028241
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC rs55672378
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.*1015T>C rs6494720
NM_017882.3(CLN6):c.*1023G>A
NM_017882.3(CLN6):c.*1103G>A rs147362516
NM_017882.3(CLN6):c.*1109G>A
NM_017882.3(CLN6):c.*131G>T rs556392570
NM_017882.3(CLN6):c.*132C>T rs886051445
NM_017882.3(CLN6):c.*140_*143del rs754855292
NM_017882.3(CLN6):c.*141_*142GT[11] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[12] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[13] rs3837692
NM_017882.3(CLN6):c.*141_*142GT[8] rs3837692
NM_017882.3(CLN6):c.*175C>T rs886051444
NM_017882.3(CLN6):c.*179G>C rs886051443
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*246G>A rs886051441
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*284C>T
NM_017882.3(CLN6):c.*300C>T rs886051439
NM_017882.3(CLN6):c.*312C>T
NM_017882.3(CLN6):c.*345C>T
NM_017882.3(CLN6):c.*393G>A
NM_017882.3(CLN6):c.*42T>G
NM_017882.3(CLN6):c.*446C>T
NM_017882.3(CLN6):c.*470C>T rs565006193
NM_017882.3(CLN6):c.*481T>G
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*532T>A rs886051437
NM_017882.3(CLN6):c.*646C>G rs144976448
NM_017882.3(CLN6):c.*655C>T
NM_017882.3(CLN6):c.*667G>A rs111879561
NM_017882.3(CLN6):c.*690A>G rs8033190
NM_017882.3(CLN6):c.*69G>T rs761969677
NM_017882.3(CLN6):c.*725C>T rs369225795
NM_017882.3(CLN6):c.*749T>C
NM_017882.3(CLN6):c.*75G>C
NM_017882.3(CLN6):c.*817C>T rs8142
NM_017882.3(CLN6):c.*882C>T
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.*934G>T rs114551417
NM_017882.3(CLN6):c.*991C>A
NM_017882.3(CLN6):c.-101A>G
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.-22C>A rs886051448
NM_017882.3(CLN6):c.-23G>A rs536088577
NM_017882.3(CLN6):c.-27C>A rs1024665053
NM_017882.3(CLN6):c.-29G>T rs1057523327
NM_017882.3(CLN6):c.-34G>A rs971420018
NM_017882.3(CLN6):c.-37C>T rs1001908044
NM_017882.3(CLN6):c.-38C>T
NM_017882.3(CLN6):c.-5C>T rs796052347
NM_017882.3(CLN6):c.-92C>T
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.114C>G (p.Ala38=)
NM_017882.3(CLN6):c.114C>T (p.Ala38=)
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys)
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486
NM_017882.3(CLN6):c.121del (p.Ala41fs)
NM_017882.3(CLN6):c.123T>A (p.Ala41=)
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala)
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.157C>T (p.Leu53=)
NM_017882.3(CLN6):c.159G>A (p.Leu53=)
NM_017882.3(CLN6):c.15G>A (p.Arg5=)
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter) rs1057520571
NM_017882.3(CLN6):c.16A>C (p.Arg6=)
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.196dup (p.Met66fs)
NM_017882.3(CLN6):c.198+104T>C rs8025947
NM_017882.3(CLN6):c.198+181A>G rs59385667
NM_017882.3(CLN6):c.198+1G>A rs886039727
NM_017882.3(CLN6):c.199-252A>C rs6494721
NM_017882.3(CLN6):c.199-2A>G
NM_017882.3(CLN6):c.199-4G>A
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.199-70G>A rs114850355
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
NM_017882.3(CLN6):c.213C>A (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)
NM_017882.3(CLN6):c.21G>A (p.Arg7=)
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.225A>G (p.Pro75=)
NM_017882.3(CLN6):c.228C>T (p.Leu76=)
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) rs154774641
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.252C>T (p.Tyr84=)
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593
NM_017882.3(CLN6):c.27C>T (p.His9=)
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.288C>G (p.Leu96=)
NM_017882.3(CLN6):c.28C>T (p.Leu10=)
NM_017882.3(CLN6):c.294C>G (p.Leu98=)
NM_017882.3(CLN6):c.297+113G>C rs553192210
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297+9C>T
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.298-168C>T rs56883694
NM_017882.3(CLN6):c.298-196A>G rs61281446
NM_017882.3(CLN6):c.298-248G>A rs59951468
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.298-8A>T
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
NM_017882.3(CLN6):c.321C>T (p.Thr107=)
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353
NM_017882.3(CLN6):c.324G>T (p.Leu108=)
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) rs1555438696
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.33A>G (p.Gly11=)
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
NM_017882.3(CLN6):c.342C>T (p.Tyr114=)
NM_017882.3(CLN6):c.345G>A (p.Val115=)
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
NM_017882.3(CLN6):c.348C>T (p.Ser116=)
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) rs141950483
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.375C>T (p.Ser125=)
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
NM_017882.3(CLN6):c.414C>T (p.Leu138=)
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268
NM_017882.3(CLN6):c.423C>T (p.Gly141=)
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.426C>T (p.Tyr142=)
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
NM_017882.3(CLN6):c.462C>T (p.Ile154=)
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.483G>T (p.Thr161=)
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017882.3(CLN6):c.486+1G>C
NM_017882.3(CLN6):c.486+2T>C rs796052355
NM_017882.3(CLN6):c.486+51C>T rs8024979
NM_017882.3(CLN6):c.486+7C>G
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-10C>T
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-13G>A rs747926816
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-20C>T rs772189210
NM_017882.3(CLN6):c.487-39C>T rs116956347
NM_017882.3(CLN6):c.487-3C>G
NM_017882.3(CLN6):c.487-7C>T
NM_017882.3(CLN6):c.487-8T>C rs202046680
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.502C>T (p.Leu168=)
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
NM_017882.3(CLN6):c.519T>C (p.Asp173=)
NM_017882.3(CLN6):c.522G>A (p.Glu174=) rs753538013
NM_017882.3(CLN6):c.526C>T (p.Leu176=)
NM_017882.3(CLN6):c.528G>A (p.Leu176=)
NM_017882.3(CLN6):c.534C>T (p.His178=)
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.542+212C>T rs111504155
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.542+8A>G rs1555438612
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter)
NM_017882.3(CLN6):c.543-10C>T
NM_017882.3(CLN6):c.543-2A>G
NM_017882.3(CLN6):c.543-9C>T rs374653673
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
NM_017882.3(CLN6):c.549C>T (p.Ile183=)
NM_017882.3(CLN6):c.54G>A (p.Ala18=)
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.558C>T (p.Phe186=)
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645
NM_017882.3(CLN6):c.582C>T (p.Ser194=)
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187
NM_017882.3(CLN6):c.583_596del (p.Gly195fs)
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.609G>A (p.Glu203=)
NM_017882.3(CLN6):c.60G>A (p.Leu20=)
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530
NM_017882.3(CLN6):c.61_62insCGG (p.Gly21_Ala22insAla) rs878855040
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.634C>T (p.Leu212Phe) rs751562146
NM_017882.3(CLN6):c.636C>T (p.Leu212=) rs758612277
NM_017882.3(CLN6):c.637C>T (p.Leu213=)
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348
NM_017882.3(CLN6):c.640G>T (p.Val214Leu) rs765491294
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp)
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
NM_017882.3(CLN6):c.657G>A (p.Leu219=)
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.663C>T (p.Tyr221=)
NM_017882.3(CLN6):c.665+10C>T
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665+265G>A rs11632516
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.666-14C>T
NM_017882.3(CLN6):c.666-20C>T rs754129486
NM_017882.3(CLN6):c.666-3C>T
NM_017882.3(CLN6):c.666-5T>A rs1401270931
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter)
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.66del (p.Ser23fs)
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.681G>A (p.Glu227=)
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.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.711C>T (p.Thr237=)
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) rs154774637
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr)
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.3(CLN6):c.719C>T (p.Ala240Val)
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.723G>T (p.Met241Ile)
NM_017882.3(CLN6):c.724C>T (p.Leu242=)
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.72C>T (p.Phe24=)
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
NM_017882.3(CLN6):c.732C>T (p.Leu244=)
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
NM_017882.3(CLN6):c.747G>A (p.Lys249=)
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) rs950362413
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.759C>G (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.75G>T (p.Leu25=)
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
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.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) rs796052359
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390
NM_017882.3(CLN6):c.818T>C (p.Val273Ala)
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys)
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
NM_017882.3(CLN6):c.83+11G>A
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.83+35C>G rs150630197
NM_017882.3(CLN6):c.83+7G>A rs1595826955
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322
NM_017882.3(CLN6):c.84-18C>T rs201554701
NM_017882.3(CLN6):c.84-1G>A rs1064796787
NM_017882.3(CLN6):c.84-81C>T rs117298614
NM_017882.3(CLN6):c.84-8C>T rs756782429
NM_017882.3(CLN6):c.84-9C>T rs778471506
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.894G>A (p.Glu298=)
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala) rs753497587
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) rs1064796587
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801
Single allele

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