ClinVar Miner

List of variants in gene CLN3 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1
GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1
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.-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.-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.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.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1056+8A>C rs991918245
NM_000086.2(CLN3):c.1057-11C>T rs189498501
NM_000086.2(CLN3):c.1057-144C>T
NM_000086.2(CLN3):c.1057-55C>T
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
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.1135C>T (p.Leu379=) rs890026046
NM_000086.2(CLN3):c.1150C>T (p.Leu384=) rs1057521416
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.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.1200C>T (p.Thr400=)
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.125+3G>A rs775577824
NM_000086.2(CLN3):c.125+49A>G
NM_000086.2(CLN3):c.126-211A>T
NM_000086.2(CLN3):c.1262C>T (p.Ser421Phe) rs778225078
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.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.180C>T (p.His60=) rs150120797
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.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.266G>A (p.Arg89Gln) rs766287694
NM_000086.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_000086.2(CLN3):c.288T>A (p.Ser96=) rs1555469051
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.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.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.375-19_375-4dup rs755313503
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.418G>A (p.Val140Ile) rs373034150
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+63A>G
NM_000086.2(CLN3):c.461-3C>A rs181995380
NM_000086.2(CLN3):c.461-3C>G rs181995380
NM_000086.2(CLN3):c.47-11C>A rs561083322
NM_000086.2(CLN3):c.47-4C>T rs1555469480
NM_000086.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_000086.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_000086.2(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_000086.2(CLN3):c.533+18G>A rs376160790
NM_000086.2(CLN3):c.534-18C>T rs1310342698
NM_000086.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_000086.2(CLN3):c.586G>T (p.Ala196Ser) rs796052339
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.649C>A (p.Leu217Met) rs150913606
NM_000086.2(CLN3):c.665T>A (p.Leu222Gln) rs781613318
NM_000086.2(CLN3):c.677+147C>G
NM_000086.2(CLN3):c.677+19G>A rs367594758
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.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.750del (p.Gln251fs) rs1064796502
NM_000086.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531
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.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+3A>C rs386833738
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.837+12G>A rs763812265
NM_000086.2(CLN3):c.849G>T (p.Trp283Cys) rs1064795226
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.907-19del
NM_000086.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714
NM_000086.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335
NM_000086.2(CLN3):c.962+3A>T rs796052336
NM_000086.2(CLN3):c.963-16C>A rs200023908
NM_000086.2(CLN3):c.963-16C>G rs200023908
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.988G>A (p.Val330Ile) rs386833744
NM_001042432.1(CLN3):c.222+13_222+14delCT rs1064794997

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