ClinVar Miner

List of variants in gene CLN3 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 19
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HGVS dbSNP
NM_000086.2(CLN3):c.-1G>T rs201274333
NM_000086.2(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_000086.2(CLN3):c.1163C>T (p.Ala388Val) rs148514847
NM_000086.2(CLN3):c.1198-5C>T rs764999720
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.1240A>G (p.Ile414Val)
NM_000086.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_000086.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_000086.2(CLN3):c.393T>C (p.Ser131=) rs794727850
NM_000086.2(CLN3):c.399T>C (p.Ile133=) rs775739498
NM_000086.2(CLN3):c.461-3C>A rs181995380
NM_000086.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_000086.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531
NM_000086.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_000086.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000086.2(CLN3):c.938T>C (p.Leu313Pro) rs141816714

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