ClinVar Miner

List of variants in gene CLN3 studied for Seizures

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Total variants: 22
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HGVS dbSNP
NM_000086.2(CLN3):c.-1G>T rs201274333
NM_000086.2(CLN3):c.1002C>T (p.Arg334=)
NM_000086.2(CLN3):c.1158C>T (p.Gly386=)
NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847
NM_000086.2(CLN3):c.1168G>A (p.Val390Met) rs777383109
NM_000086.2(CLN3):c.1203T>A (p.Ser401Arg)
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.1269G>A (p.Ser423=)
NM_000086.2(CLN3):c.174C>T (p.Ala58=) rs138433617
NM_000086.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.361C>G (p.Leu121Val) rs752282954
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.437A>G (p.His146Arg) rs1197989757
NM_000086.2(CLN3):c.45G>A (p.Glu15=) rs201824641
NM_000086.2(CLN3):c.742G>A (p.Ala248Thr)
NM_000086.2(CLN3):c.771G>A (p.Glu257=) rs73533466
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183

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