ClinVar Miner

List of variants in gene CLN3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
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.49G>A (p.Glu17Lys) rs386833726 0.00011
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.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531 0.00009
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.32T>C (p.Phe11Ser) rs752205710 0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) rs373034150 0.00005
NM_001042432.2(CLN3):c.-2C>G rs747169563 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.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.1198-5C>T rs764999720 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.461-3C>A rs181995380 0.00003
NM_001042432.2(CLN3):c.859C>T (p.Pro287Ser) rs796052341 0.00003
NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln) rs780776829 0.00002
NM_001042432.2(CLN3):c.693C>T (p.Leu231=) rs376590377 0.00002
NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp) rs113041302 0.00002
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 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.1309C>T (p.Leu437Phe) rs1085307617 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.277A>G (p.Asn93Asp) rs761369095 0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) rs760039703 0.00001
NM_001042432.2(CLN3):c.399T>C (p.Ile133=) rs775739498 0.00001
NM_001042432.2(CLN3):c.464T>G (p.Val155Gly) rs779304920 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.-1G>T rs201274333
NM_001042432.2(CLN3):c.-3G>A
NM_001042432.2(CLN3):c.1117C>G (p.Leu373Val) rs752700529
NM_001042432.2(CLN3):c.1205A>G (p.Asp402Gly) rs1289559935
NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr) rs146610181
NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile) rs1596619244
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) rs1433950864
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.294+5G>T rs780921389
NM_001042432.2(CLN3):c.377C>T (p.Pro126Leu) rs2141714590
NM_001042432.2(CLN3):c.388G>A (p.Val130Ile) rs764261700
NM_001042432.2(CLN3):c.393T>C (p.Ser131=) rs794727850
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042432.2(CLN3):c.545C>G (p.Ser182Cys) rs2141712549
NM_001042432.2(CLN3):c.550T>C (p.Trp184Arg) rs2046221058
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.586G>T (p.Ala196Ser) rs796052339
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.707C>T (p.Ala236Val) rs754906598
NM_001042432.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_001042432.2(CLN3):c.764G>A (p.Arg255Lys) rs1064795604
NM_001042432.2(CLN3):c.767C>T (p.Thr256Ile) rs1064796298
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.793T>G (p.Ser265Ala) rs2141704251
NM_001042432.2(CLN3):c.849G>T (p.Trp283Cys) rs1064795226
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042432.2(CLN3):c.87C>A (p.Asp29Glu) rs1131691496
NM_001042432.2(CLN3):c.950A>G (p.Gln317Arg) rs1215782261
NM_001042432.2(CLN3):c.964T>C (p.Tyr322His) rs2141702890
NM_001042432.2(CLN3):c.976T>C (p.Tyr326His) rs796052337

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