ClinVar Miner

List of variants in gene CLN3 reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1048delC (p.Leu350Cysfs) rs386833696
NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_001042432.1(CLN3):c.1056+3A>C rs386833698
NM_001042432.1(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_001042432.1(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.1(CLN3):c.1198-1G>T rs386833702
NM_001042432.1(CLN3):c.1247A>G (p.Asp416Gly) rs386833703
NM_001042432.1(CLN3):c.125+5G>A rs386833704
NM_001042432.1(CLN3):c.126-1G>A rs386833705
NM_001042432.1(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.1(CLN3):c.1272delG (p.Leu425Serfs) rs386833707
NM_001042432.1(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_001042432.1(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_001042432.1(CLN3):c.222+2T>G rs386833710
NM_001042432.1(CLN3):c.222+5G>C rs386833711
NM_001042432.1(CLN3):c.233dupG (p.Thr80Asnfs) rs386833712
NM_001042432.1(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.1(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_001042432.1(CLN3):c.370dupT (p.Tyr124Leufs) rs386833715
NM_001042432.1(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_001042432.1(CLN3):c.378_379dupCC (p.Arg127Profs) rs386833717
NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) rs386833717
NM_001042432.1(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) rs386833720
NM_001042432.1(CLN3):c.461-13G>C rs386833721
NM_001042432.1(CLN3):c.461-1G>A rs386833722
NM_001042432.1(CLN3):c.461-1G>C rs386833722
NM_001042432.1(CLN3):c.472G>C (p.Ala158Pro) rs386833723
NM_001042432.1(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_001042432.1(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.1(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_001042432.1(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_001042432.1(CLN3):c.533+1G>A rs386833728
NM_001042432.1(CLN3):c.533+1G>C rs386833728
NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) rs386833729
NM_001042432.1(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_001042432.1(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.1(CLN3):c.569delG (p.Gly190Glufs) rs386833732
NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.1(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.1(CLN3):c.586dupG (p.Ala196Glyfs) rs386833735
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.1(CLN3):c.906+5G>A rs386833739
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001042432.1(CLN3):c.954_962+18del27 rs386833741
NM_001042432.1(CLN3):c.963-1G>T rs386833742
NM_001042432.1(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_001042432.1(CLN3):c.988G>T (p.Val330Phe) rs386833744

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