List of variants in gene CLN3 reported as uncertain significance for Neuronal ceroid lipofuscinosis 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_001042432.2(CLN3):c.-129G>C	rs141305257	0.00315
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	rs145967477	0.00103
NM_001042432.1(CLN3):c.-264C>G	rs187163584	0.00096
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	rs150348015	0.00074
NM_001042432.2(CLN3):c.*55C>A	rs199979207	0.00065
NM_001042432.2(CLN3):c.831G>A (p.Val277=)	rs1142183	0.00045
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	rs201206239	0.00040
NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)	rs137858807	0.00031
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	rs137906617	0.00029
NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)	rs370603922	0.00023
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)	rs144770450	0.00017
NM_001042432.2(CLN3):c.677+8G>A	rs368568189	0.00015
NM_001042432.2(CLN3):c.*200A>G	rs561135374	0.00014
NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)	rs386833726	0.00011
NM_001042432.2(CLN3):c.-41C>A	rs370217726	0.00010
NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)	rs148514847	0.00010
NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)	rs752282954	0.00010
NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)	rs141816714	0.00010
NM_001042432.2(CLN3):c.*78G>A	rs751235567	0.00009
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)	rs150913606	0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)	rs769104531	0.00009
NM_001042432.2(CLN3):c.759C>A (p.Leu253=)	rs772274552	0.00009
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)	rs377369610	0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001042432.2(CLN3):c.250C>A (p.His84Asn)	rs201329358	0.00007
NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)	rs776725094	0.00006
NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)	rs759049027	0.00006
NM_001042432.2(CLN3):c.126-8C>T	rs770136863	0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=)	rs201225986	0.00006
NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)	rs376421578	0.00006
NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)	rs752205710	0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)	rs373034150	0.00005
NM_001042432.2(CLN3):c.*29A>G	rs778438984	0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)	rs376478363	0.00004
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)	rs777383109	0.00004
NM_001042432.2(CLN3):c.125+3G>A	rs775577824	0.00004
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)	rs775999656	0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)	rs148846795	0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	rs386833744	0.00004
NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)	rs771305783	0.00003
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)	rs376907245	0.00003
NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)	rs370963882	0.00003
NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)	rs764585366	0.00003
NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)	rs146124686	0.00003
NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)	rs778225078	0.00003
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)	rs769840061	0.00003
NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)	rs149095062	0.00003
NM_001042432.2(CLN3):c.461-3C>A	rs181995380	0.00003
NM_001042432.2(CLN3):c.47-3C>T	rs377583228	0.00003
NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)	rs1328657534	0.00003
NM_001042432.2(CLN3):c.*187G>A	rs867117606	0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)	rs780776829	0.00002
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)	rs764881080	0.00002
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)	rs113041302	0.00002
NM_001042432.1(CLN3):c.-364C>T	rs1422231105	0.00001
NM_001042432.2(CLN3):c.*205G>A	rs757923800	0.00001
NM_001042432.2(CLN3):c.*58A>C	rs142958639	0.00001
NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)	rs557870972	0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)	rs150986176	0.00001
NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)	rs776443981	0.00001
NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)	rs1064795206	0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	rs796052338	0.00001
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)	rs780151271	0.00001
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)	rs766287694	0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)	rs760039703	0.00001
NM_001042432.2(CLN3):c.327C>T (p.Leu109=)	rs748293490	0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)	rs201168980	0.00001
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)	rs371590088	0.00001
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)	rs779304920	0.00001
NM_001042432.2(CLN3):c.538G>A (p.Val180Met)	rs202215629	0.00001
NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)	rs781613318	0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)	rs745948575	0.00001
NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)	rs771303379	0.00001
NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)	rs199627744	0.00001
NM_001042432.2(CLN3):c.791-7C>A	rs942972881	0.00001
NM_001042432.2(CLN3):c.837+5G>A	rs756848924	0.00001
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn)	rs769358990	0.00001
NM_001042432.2(CLN3):c.962+3A>T	rs796052336	0.00001
NM_001042432.1(CLN3):c.-210G>T	rs2046326373
NM_001042432.1(CLN3):c.-218G>A	rs886051874
NM_001042432.1(CLN3):c.-279G>C	rs1232959828
NM_001042432.2(CLN3):c.*111G>T	rs2046010035
NM_001042432.2(CLN3):c.-112C>T	rs572212180
NM_001042432.2(CLN3):c.-1G>T	rs201274333
NM_001042432.2(CLN3):c.-77+14G>T	rs886051873
NM_001042432.2(CLN3):c.1057-14C>A	rs773692029
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)	rs2046022965
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)	rs1433950864
NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)	rs571216643
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)	rs769840061
NM_001042432.2(CLN3):c.222+3A>T
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)	rs145520962
NM_001042432.2(CLN3):c.317T>A (p.Leu106His)	rs2046245840
NM_001042432.2(CLN3):c.461-3C>T	rs181995380
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)	rs386833723
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	rs386833731
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	rs386833733
NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)	rs796052340
NM_001042432.2(CLN3):c.734_736del (p.Ala245del)	rs776966610
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)	rs73533466
NM_001042432.2(CLN3):c.790+3A>C	rs386833738
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	rs748844685
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile)	rs369008702
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	rs369008702
NM_001042432.2(CLN3):c.870A>G (p.Val290=)	rs1555468214

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