ClinVar Miner

List of variants in gene CLN3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 327
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HGVS dbSNP
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
NC_000016.9:g.(?_28486664)_(28489218_?)dup
NC_000016.9:g.(?_28486664)_(28503100_?)dup
NC_000016.9:g.(?_28488817)_(28489218_?)dup
NC_000016.9:g.(?_28497286)_(28498251_?)del
NC_000016.9:g.(?_28497648)_(28497991_?)del
NC_000016.9:g.(?_28497668)_(28497971_?)del
NC_000016.9:g.(?_28498757)_(28503100_?)del
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NG_008654.2:g.(9642_9761)_(10726_10812)del
NM_000086.2(CLN3):c.*155A>C rs113112766
NM_000086.2(CLN3):c.*200A>G rs561135374
NM_000086.2(CLN3):c.*205G>A rs757923800
NM_000086.2(CLN3):c.*29A>G rs778438984
NM_000086.2(CLN3):c.*55C>A rs199979207
NM_000086.2(CLN3):c.*78G>A rs751235567
NM_000086.2(CLN3):c.*99C>T rs113845299
NM_000086.2(CLN3):c.-176G>A
NM_000086.2(CLN3):c.-17G>A rs770428655
NM_000086.2(CLN3):c.-1G>T rs201274333
NM_000086.2(CLN3):c.-247G>T rs886051873
NM_000086.2(CLN3):c.-249A>C rs1555469548
NM_000086.2(CLN3):c.-274T>C rs1362294732
NM_000086.2(CLN3):c.-275C>G rs946396606
NM_000086.2(CLN3):c.-277T>G
NM_000086.2(CLN3):c.-289T>A
NM_000086.2(CLN3):c.-296C>T rs572212180
NM_000086.2(CLN3):c.-313G>C rs141305257
NM_000086.2(CLN3):c.-33C>A rs368494637
NM_000086.2(CLN3):c.-41C>A rs370217726
NM_000086.2(CLN3):c.-80G>T rs796052334
NM_000086.2(CLN3):c.-90G>A rs368542813
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1002C>T (p.Arg334=)
NM_000086.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_000086.2(CLN3):c.1004C>A (p.Ser335Tyr) rs765157752
NM_000086.2(CLN3):c.1012C>T (p.Arg338Cys) rs776725094
NM_000086.2(CLN3):c.1013G>A (p.Arg338His) rs557870972
NM_000086.2(CLN3):c.1022G>A (p.Arg341His) rs201271341
NM_000086.2(CLN3):c.1028G>A (p.Arg343His) rs771305783
NM_000086.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_000086.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056+8A>C rs991918245
NM_000086.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.1056G>T (p.Gln352His)
NM_000086.2(CLN3):c.1057-11C>T rs189498501
NM_000086.2(CLN3):c.1057-144C>T
NM_000086.2(CLN3):c.1057-14C>A rs773692029
NM_000086.2(CLN3):c.1057-23dup rs148146139
NM_000086.2(CLN3):c.1057-55C>T
NM_000086.2(CLN3):c.1057-9del
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_000086.2(CLN3):c.1069G>T (p.Val357Leu) rs1567254103
NM_000086.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_000086.2(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_000086.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_000086.2(CLN3):c.1117C>G (p.Leu373Val) rs752700529
NM_000086.2(CLN3):c.1120G>A (p.Val374Ile) rs759049027
NM_000086.2(CLN3):c.1121T>C (p.Val374Ala)
NM_000086.2(CLN3):c.1132A>G (p.Ile378Val)
NM_000086.2(CLN3):c.1135C>T (p.Leu379=) rs890026046
NM_000086.2(CLN3):c.1150C>T (p.Leu384=) rs1057521416
NM_000086.2(CLN3):c.1158C>T (p.Gly386=)
NM_000086.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719
NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847
NM_000086.2(CLN3):c.1167C>T (p.Tyr389=) rs371025471
NM_000086.2(CLN3):c.1168G>A (p.Val390Met) rs777383109
NM_000086.2(CLN3):c.1186A>G (p.Ile396Val)
NM_000086.2(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_000086.2(CLN3):c.1192C>G (p.Leu398Val)
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.1197+13C>A rs370103287
NM_000086.2(CLN3):c.1197+13C>T rs370103287
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1198-14C>G rs757911107
NM_000086.2(CLN3):c.1198-17G>A rs749612121
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.1198-5C>T rs764999720
NM_000086.2(CLN3):c.1200C>T (p.Thr400=)
NM_000086.2(CLN3):c.1203T>A (p.Ser401Arg)
NM_000086.2(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1210C>T (p.His404Tyr) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.1213C>A (p.Arg405=) rs139842473
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.1225A>G (p.Met409Val) rs776443981
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.1234A>G (p.Thr412Ala) rs1064795206
NM_000086.2(CLN3):c.1240A>G (p.Ile414Val)
NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703
NM_000086.2(CLN3):c.1249A>G (p.Thr417Ala)
NM_000086.2(CLN3):c.125+1del rs1555469452
NM_000086.2(CLN3):c.125+3G>A rs775577824
NM_000086.2(CLN3):c.125+49A>G
NM_000086.2(CLN3):c.125+5G>A rs386833704
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_000086.2(CLN3):c.126-1G>A rs386833705
NM_000086.2(CLN3):c.126-211A>T
NM_000086.2(CLN3):c.126-4C>A rs1555469191
NM_000086.2(CLN3):c.1262C>T (p.Ser421Phe) rs778225078
NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_000086.2(CLN3):c.1269G>A (p.Ser423=)
NM_000086.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_000086.2(CLN3):c.1276C>G (p.Leu426Val)
NM_000086.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_000086.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_000086.2(CLN3):c.1305C>G (p.Cys435Trp)
NM_000086.2(CLN3):c.1309C>T (p.Leu437Phe) rs1085307617
NM_000086.2(CLN3):c.141del (p.Leu46_Cys47insTer) rs1064795153
NM_000086.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.17del (p.Gly6fs) rs886043242
NM_000086.2(CLN3):c.180C>T (p.His60=) rs150120797
NM_000086.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_000086.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_000086.2(CLN3):c.1A>G (p.Met1Val) rs386833708
NM_000086.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_000086.2(CLN3):c.207G>A (p.Ser69=) rs551476103
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.222+2T>G rs386833710
NM_000086.2(CLN3):c.222+5G>C rs386833711
NM_000086.2(CLN3):c.222+9CT[2] rs1064794997
NM_000086.2(CLN3):c.222T>C (p.His74=) rs201225986
NM_000086.2(CLN3):c.223-1G>A rs1555469089
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.236C>T (p.Pro79Leu)
NM_000086.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_000086.2(CLN3):c.239C>T (p.Thr80Met) rs775999656
NM_000086.2(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_000086.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.243G>A (p.Pro81=) rs779165392
NM_000086.2(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_000086.2(CLN3):c.264A>C (p.Ser88=) rs751321507
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.266G>A (p.Arg89Gln) rs766287694
NM_000086.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_000086.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_000086.2(CLN3):c.279_280CT[1] (p.Ser94fs) rs1057517215
NM_000086.2(CLN3):c.283G>A (p.Val95Ile)
NM_000086.2(CLN3):c.288T>A (p.Ser96=) rs1555469051
NM_000086.2(CLN3):c.290C>T (p.Thr97Met) rs376421578
NM_000086.2(CLN3):c.291G>A (p.Thr97=)
NM_000086.2(CLN3):c.294+253T>A
NM_000086.2(CLN3):c.294+265A>T
NM_000086.2(CLN3):c.294+286A>G
NM_000086.2(CLN3):c.295-127C>T
NM_000086.2(CLN3):c.295-13T>A rs796052333
NM_000086.2(CLN3):c.295-17C>G rs375311626
NM_000086.2(CLN3):c.295-17C>T rs375311626
NM_000086.2(CLN3):c.295-2A>C rs1478660606
NM_000086.2(CLN3):c.298G>C (p.Val100Leu)
NM_000086.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_000086.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_000086.2(CLN3):c.304C>T (p.Leu102=) rs1167562278
NM_000086.2(CLN3):c.308C>T (p.Ala103Val) rs760039703
NM_000086.2(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.319C>T (p.Pro107Ser) rs149095062
NM_000086.2(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_000086.2(CLN3):c.32T>C (p.Phe11Ser) rs752205710
NM_000086.2(CLN3):c.33T>C (p.Phe11=) rs1555469504
NM_000086.2(CLN3):c.361C>G (p.Leu121Val) rs752282954
NM_000086.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_000086.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_000086.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_000086.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_000086.2(CLN3):c.375-19_375-4dup rs755313503
NM_000086.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.380G>A (p.Arg127Gln) rs780776829
NM_000086.2(CLN3):c.388G>A (p.Val130Ile) rs764261700
NM_000086.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_000086.2(CLN3):c.393T>C (p.Ser131=) rs794727850
NM_000086.2(CLN3):c.399T>C (p.Ile133=) rs775739498
NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_000086.2(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_000086.2(CLN3):c.420C>G (p.Val140=) rs544119921
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.436C>T (p.His146Tyr) rs371590088
NM_000086.2(CLN3):c.437A>G (p.His146Arg) rs1197989757
NM_000086.2(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_000086.2(CLN3):c.45G>A (p.Glu15=) rs201824641
NM_000086.2(CLN3):c.46+13G>A
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.46+1G>C rs1057516343
NM_000086.2(CLN3):c.46+63A>G
NM_000086.2(CLN3):c.460+376_677+388del
NM_000086.2(CLN3):c.460+3G>A rs779238243
NM_000086.2(CLN3):c.461-13G>C rs386833721
NM_000086.2(CLN3):c.461-1G>A rs386833722
NM_000086.2(CLN3):c.461-1G>C rs386833722
NM_000086.2(CLN3):c.461-1G>T
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.461-280_677+382del rs1555468634
NM_000086.2(CLN3):c.461-3C>A rs181995380
NM_000086.2(CLN3):c.461-3C>G rs181995380
NM_000086.2(CLN3):c.461-3C>T rs181995380
NM_000086.2(CLN3):c.47-11C>A rs561083322
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.47-3C>T
NM_000086.2(CLN3):c.47-4C>T rs1555469480
NM_000086.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_000086.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723
NM_000086.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_000086.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_000086.2(CLN3):c.494G>A (p.Gly165Glu) rs786201028
NM_000086.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_000086.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_000086.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.519T>C (p.Thr173=)
NM_000086.2(CLN3):c.533+18G>A rs376160790
NM_000086.2(CLN3):c.533+1G>A rs386833728
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.534-18C>T rs1310342698
NM_000086.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_000086.2(CLN3):c.565G>A (p.Gly189Arg)
NM_000086.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_000086.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802
NM_000086.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.586G>T (p.Ala196Ser) rs796052339
NM_000086.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.615C>T (p.Ala205=) rs145631076
NM_000086.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.626C>T (p.Pro209Leu) rs139417824
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534
NM_000086.2(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_000086.2(CLN3):c.665T>A (p.Leu222Gln) rs781613318
NM_000086.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_000086.2(CLN3):c.677+147C>G
NM_000086.2(CLN3):c.677+19G>A rs367594758
NM_000086.2(CLN3):c.677+1G>T rs1057517287
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.678-18C>A rs370158185
NM_000086.2(CLN3):c.678-313G>A
NM_000086.2(CLN3):c.67C>T (p.Pro23Ser) rs757558651
NM_000086.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_000086.2(CLN3):c.688T>A (p.Leu230Met)
NM_000086.2(CLN3):c.707C>T (p.Ala236Val) rs754906598
NM_000086.2(CLN3):c.725_727AAG[2] (p.Glu244del) rs796052340
NM_000086.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_000086.2(CLN3):c.742G>A (p.Ala248Thr)
NM_000086.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080
NM_000086.2(CLN3):c.750del (p.Gln251fs) rs1064796502
NM_000086.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531
NM_000086.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575
NM_000086.2(CLN3):c.764G>A (p.Arg255Lys) rs1064795604
NM_000086.2(CLN3):c.767C>T (p.Thr256Ile) rs1064796298
NM_000086.2(CLN3):c.768C>G (p.Thr256=)
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.769G>A (p.Glu257Lys) rs771303379
NM_000086.2(CLN3):c.771G>A (p.Glu257=) rs73533466
NM_000086.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_000086.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_000086.2(CLN3):c.777G>A (p.Pro259=) rs751443804
NM_000086.2(CLN3):c.784A>T (p.Lys262Ter) rs1064794233
NM_000086.2(CLN3):c.790+16C>A rs200731769
NM_000086.2(CLN3):c.790+1del rs1555468374
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.790+532_1056+1445del
NM_000086.2(CLN3):c.791-1G>A rs1057517350
NM_000086.2(CLN3):c.791-6C>T rs1057523421
NM_000086.2(CLN3):c.814C>T (p.Arg272Trp) rs113041302
NM_000086.2(CLN3):c.816_817del (p.Glu273fs) rs886041546
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000086.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_000086.2(CLN3):c.837+12G>A rs763812265
NM_000086.2(CLN3):c.837+4C>T
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.849G>T (p.Trp283Cys) rs1064795226
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.859C>T (p.Pro287Ser) rs796052341
NM_000086.2(CLN3):c.861C>T (p.Pro287=) rs1057524528
NM_000086.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_000086.2(CLN3):c.870A>G (p.Val290=) rs1555468214
NM_000086.2(CLN3):c.87C>A (p.Asp29Glu) rs1131691496
NM_000086.2(CLN3):c.882C>T (p.Ala294=) rs766972077
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.89A>G (p.His30Arg) rs1399199073
NM_000086.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000
NM_000086.2(CLN3):c.906+2T>A rs771788391
NM_000086.2(CLN3):c.906+5G>A rs386833739
NM_000086.2(CLN3):c.907-19del
NM_000086.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714
NM_000086.2(CLN3):c.941G>A (p.Ser314Asn) rs769358990
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000086.2(CLN3):c.962+1G>A rs1057516267
NM_000086.2(CLN3):c.962+3A>T rs796052336
NM_000086.2(CLN3):c.962+7G>A rs1555468172
NM_000086.2(CLN3):c.963-16C>A rs200023908
NM_000086.2(CLN3):c.963-16C>G rs200023908
NM_000086.2(CLN3):c.963-1G>A rs386833742
NM_000086.2(CLN3):c.963-1G>T rs386833742
NM_000086.2(CLN3):c.963-2A>C rs1418997146
NM_000086.2(CLN3):c.963-63_963-44dup rs1555468153
NM_000086.2(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_000086.2(CLN3):c.976T>C (p.Tyr326His) rs796052337
NM_000086.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_000086.2(CLN3):c.987C>T (p.Gly329=) rs777779035
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000086.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-264C>G rs187163584
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211
NM_001042432.1(CLN3):c.379del (p.Arg127fs) rs386833717

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