ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 5 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 22
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HGVS dbSNP
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.339+5G>C rs202146713
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) rs386833978
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968

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