ClinVar Miner

List of variants in gene CLN8 studied for not provided

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.-123-127C>T rs4875957 0.81090
NM_018941.4(CLN8):c.544-227A>G rs3935479 0.07779
NM_018941.4(CLN8):c.544-124T>C rs12546965 0.07202
NM_018941.4(CLN8):c.-124+113G>A rs373818270 0.01856
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_018941.4(CLN8):c.*25G>A rs200904267 0.00185
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018941.4(CLN8):c.-129G>T rs1024120201 0.00064
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
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.318C>T (p.His106=) rs184988046 0.00018
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_018941.4(CLN8):c.333G>A (p.Thr111=) rs377273687 0.00012
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.725C>T (p.Thr242Met) rs138821993 0.00010
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser) rs201956727 0.00010
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser) rs138581191 0.00009
NM_018941.4(CLN8):c.15C>T (p.Ser5=) rs374597781 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser) rs759475160 0.00007
NM_018941.4(CLN8):c.287C>T (p.Ala96Val) rs775400768 0.00006
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.708C>T (p.Val236=) rs200760828 0.00006
NM_018941.4(CLN8):c.279C>T (p.Ala93=) rs372313992 0.00004
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.499G>T (p.Glu167Ter) rs144495588 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.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg) rs919541697 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 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.111C>T (p.Gly37=) rs753430388 0.00002
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.-1A>T rs796052362 0.00001
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr) rs777453297 0.00001
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.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=) rs761984333 0.00001
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln) rs766172825 0.00001
NM_018941.4(CLN8):c.-108G>A rs1048152901
NM_018941.4(CLN8):c.-123-225G>C rs4875806
NM_018941.4(CLN8):c.-123-328C>G rs147182852
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.347T>C (p.Phe116Ser) rs1563108002
NM_018941.4(CLN8):c.348T>A (p.Phe116Leu) rs1273179723
NM_018941.4(CLN8):c.363C>A (p.Val121=) rs568852954
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.392T>G (p.Phe131Cys) rs1404214432
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe) rs948684101
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
NM_018941.4(CLN8):c.464C>A (p.Ala155Asp) rs386834128
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.47T>G (p.Leu16Arg) rs886043652
NM_018941.4(CLN8):c.485C>A (p.Thr162Asn) rs1554449289
NM_018941.4(CLN8):c.527C>T (p.Ser176Phe) rs794727299
NM_018941.4(CLN8):c.544-3C>T
NM_018941.4(CLN8):c.601T>A (p.Phe201Ile)
NM_018941.4(CLN8):c.623C>A (p.Thr208Asn) rs796052363
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.4(CLN8):c.80T>C (p.Leu27Pro)
NM_018941.4(CLN8):c.837G>A (p.Gln279=) rs774442159
NM_018941.4(CLN8):c.838C>T (p.Leu280=) rs886043061
NM_018941.4(CLN8):c.88G>A (p.Ala30Thr) rs137852883
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser) rs137852883
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226

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