ClinVar Miner

List of variants in gene CLN3 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000086.2(CLN3):c.*155A>C rs113112766
NM_000086.2(CLN3):c.*200A>G rs561135374
NM_000086.2(CLN3):c.*205G>A rs757923800
NM_000086.2(CLN3):c.*29A>G rs778438984
NM_000086.2(CLN3):c.*55C>A rs199979207
NM_000086.2(CLN3):c.*78G>A rs751235567
NM_000086.2(CLN3):c.*99C>T rs113845299
NM_000086.2(CLN3):c.-247G>T rs886051873
NM_000086.2(CLN3):c.-296C>T rs572212180
NM_000086.2(CLN3):c.-313G>C rs141305257
NM_000086.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_000086.2(CLN3):c.1057-14C>A rs773692029
NM_000086.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_000086.2(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.308C>T (p.Ala103Val) rs760039703
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.327C>T (p.Leu109=) rs748293490
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.436C>T (p.His146Tyr) rs371590088
NM_000086.2(CLN3):c.461-3C>T rs181995380
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_000086.2(CLN3):c.677+8G>A rs368568189
NM_000086.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.941G>A (p.Ser314Asn) rs769358990
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-264C>G rs187163584
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211

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