ClinVar Miner

List of variants in gene CLN3 studied for Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
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.*55C>A rs199979207 0.00065
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
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.*78G>A rs751235567 0.00009
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
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.1086C>G (p.Asp362Glu) rs376907245 0.00003
NM_001042432.2(CLN3):c.*205G>A rs757923800 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 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.436C>T (p.His146Tyr) rs371590088 0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575 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_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211
NM_001042432.2(CLN3):c.-112C>T rs572212180
NM_001042432.2(CLN3):c.-77+14G>T rs886051873
NM_001042432.2(CLN3):c.1057-14C>A rs773692029
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.461-3C>T rs181995380

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