ClinVar Miner

List of variants in gene CLN8 studied for not specified

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.-126C>T rs113428006 0.05990
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.11C>T (p.Ala4Val) rs147181589 0.00175
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
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.599T>C (p.Met200Thr) rs368646951 0.00011
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.246G>A (p.Leu82=) rs144015378 0.00005
NM_018941.4(CLN8):c.-46C>T rs374522261 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_018941.4(CLN8):c.*14G>T rs551042352 0.00003
NM_018941.4(CLN8):c.270G>A (p.Val90=) rs561448346 0.00003
NM_018941.4(CLN8):c.-124+7G>A rs1003657407 0.00001
NM_018941.4(CLN8):c.186C>T (p.Val62=) rs1057522154 0.00001
NM_018941.4(CLN8):c.509C>T (p.Thr170Met) rs188259026 0.00001
NM_018941.4(CLN8):c.562C>T (p.Leu188=) rs587780318 0.00001
NM_018941.4(CLN8):c.831C>T (p.Asn277=) rs200083273 0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=) rs367703234 0.00001
NM_018941.4(CLN8):c.-113G>T rs374723418
NM_018941.4(CLN8):c.-116A>T rs1410788848
NM_018941.4(CLN8):c.-120G>A rs1057520272
NM_018941.4(CLN8):c.-121T>A rs1554448797
NM_018941.4(CLN8):c.-122T>G rs796052361
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.297G>A (p.Gln99=) rs1057521001
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.46C>T (p.Leu16=) rs386834129
NM_018941.4(CLN8):c.495C>T (p.Leu165=) rs772106347
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.4(CLN8):c.631A>G (p.Met211Val) rs745785480
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
NM_018941.4(CLN8):c.844C>A (p.Arg282=) rs587780898
NM_018941.4(CLN8):c.861G>C (p.Ter287Tyr) rs2129015348

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