ClinVar Miner

List of variants in gene CLN8 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018941.4(CLN8):c.112G>A (p.Val38Ile) rs370199508 0.00024
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly) rs148668081 0.00019
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_018941.4(CLN8):c.599T>C (p.Met200Thr) rs368646951 0.00011
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser) rs201956727 0.00010
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) rs143694317 0.00004
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln) rs571617007 0.00004
NM_018941.4(CLN8):c.523G>A (p.Val175Ile) rs768139689 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00004
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg) rs919541697 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu) rs758068226 0.00003
NM_018941.4(CLN8):c.161G>A (p.Arg54His) rs372268977 0.00002
NM_018941.4(CLN8):c.837G>T (p.Gln279His) rs774442159 0.00002
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_018941.4(CLN8):c.265C>T (p.Pro89Ser) rs1486320972 0.00001
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu) rs796052365 0.00001
NM_018941.4(CLN8):c.358G>A (p.Ala120Thr) rs1353274959 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.488C>T (p.Thr163Met) rs781099399 0.00001
NM_018941.4(CLN8):c.509C>T (p.Thr170Met) rs188259026 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.-139_-124+21del rs1064796355
NM_018941.4(CLN8):c.112G>T (p.Val38Phe) rs370199508
NM_018941.4(CLN8):c.16G>C (p.Asp6His) rs200999640
NM_018941.4(CLN8):c.176G>C (p.Arg59Thr) rs796052364
NM_018941.4(CLN8):c.296A>G (p.Gln99Arg) rs1064794519
NM_018941.4(CLN8):c.321C>G (p.Ile107Met) rs2130991748
NM_018941.4(CLN8):c.339C>G (p.Phe113Leu) rs1435706348
NM_018941.4(CLN8):c.348T>A (p.Phe116Leu) rs1273179723
NM_018941.4(CLN8):c.374A>C (p.Asn125Thr) rs142269885
NM_018941.4(CLN8):c.381C>G (p.Ile127Met) rs1177176282
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.485C>A (p.Thr162Asn) rs1554449289
NM_018941.4(CLN8):c.623C>A (p.Thr208Asn) rs796052363
NM_018941.4(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.80T>C (p.Leu27Pro)
NM_018941.4(CLN8):c.88G>A (p.Ala30Thr) rs137852883
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser) rs137852883

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