ClinVar Miner

List of variants in gene CLN3 studied for Neuronal ceroid lipofuscinosis

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Gene type:
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Total variants: 75
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HGVS dbSNP
NC_000016.10:g.(?_28475343)_(28491779_?)dup
NC_000016.10:g.(?_28486327)_(28486670_?)del
NC_000016.10:g.(?_28486347)_(28486650_?)del
NC_000016.10:g.(?_28487436)_(28491779_?)del
NC_000016.10:g.(?_28488571)_(28491779_?)dup
NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1003T>C (p.Ser335Pro)
NM_001042432.1(CLN3):c.1013G>A (p.Arg338His) rs557870972
NM_001042432.1(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_001042432.1(CLN3):c.1069G>T (p.Val357Leu)
NM_001042432.1(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_001042432.1(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_001042432.1(CLN3):c.1132A>G (p.Ile378Val)
NM_001042432.1(CLN3):c.1159G>A (p.Ala387Thr) rs768614719
NM_001042432.1(CLN3):c.1191C>T (p.Ala397=) rs779338007
NM_001042432.1(CLN3):c.1197+8T>C rs587780895
NM_001042432.1(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.1225A>G (p.Met409Val) rs776443981
NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_001042432.1(CLN3):c.1240A>G (p.Ile414Val)
NM_001042432.1(CLN3):c.1249A>G (p.Thr417Ala)
NM_001042432.1(CLN3):c.125+3G>A rs775577824
NM_001042432.1(CLN3):c.126-4C>A rs1555469191
NM_001042432.1(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_001042432.1(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_001042432.1(CLN3):c.222T>C (p.His74=) rs201225986
NM_001042432.1(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_001042432.1(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_001042432.1(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_001042432.1(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042432.1(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.1(CLN3):c.283G>A (p.Val95Ile)
NM_001042432.1(CLN3):c.290C>T (p.Thr97Met) rs376421578
NM_001042432.1(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_001042432.1(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_001042432.1(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_001042432.1(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_001042432.1(CLN3):c.361C>G (p.Leu121Val) rs752282954
NM_001042432.1(CLN3):c.375-19_375-4dup rs755313503
NM_001042432.1(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_001042432.1(CLN3):c.420C>G (p.Val140=) rs544119921
NM_001042432.1(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_001042432.1(CLN3):c.45G>A (p.Glu15=) rs201824641
NM_001042432.1(CLN3):c.460+3G>A rs779238243
NM_001042432.1(CLN3):c.461-3C>A rs181995380
NM_001042432.1(CLN3):c.47-1G>A rs1555469477
NM_001042432.1(CLN3):c.47-3C>T
NM_001042432.1(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042432.1(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_001042432.1(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_001042432.1(CLN3):c.568G>A (p.Gly190Arg)
NM_001042432.1(CLN3):c.569dup (p.Ala191Serfs) rs386833732
NM_001042432.1(CLN3):c.616G>A (p.Gly206Ser) rs370603922
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.626C>T (p.Pro209Leu) rs139417824
NM_001042432.1(CLN3):c.644C>A (p.Ser215Tyr)
NM_001042432.1(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_001042432.1(CLN3):c.67C>T (p.Pro23Ser) rs757558651
NM_001042432.1(CLN3):c.734_736delCAG (p.Ala245del) rs776966610
NM_001042432.1(CLN3):c.748C>T (p.Arg250Trp) rs764881080
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042432.1(CLN3):c.771G>A (p.Glu257=) rs73533466
NM_001042432.1(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_001042432.1(CLN3):c.832T>A (p.Phe278Ile)
NM_001042432.1(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.1(CLN3):c.89A>G (p.His30Arg) rs1399199073
NM_001042432.1(CLN3):c.8G>A (p.Gly3Asp) rs756062000
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001042432.1(CLN3):c.962+7G>A rs1555468172
NM_001042432.1(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_001042432.1(CLN3):c.987C>T (p.Gly329=) rs777779035

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