ClinVar Miner

List of variants in gene CLN8 studied for Inborn genetic diseases

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Total variants: 51
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HGVS dbSNP gnomAD frequency
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.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.513C>G (p.Pro171=) rs376910635 0.00073
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.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.59C>G (p.Ser20Cys) rs749651452 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.522C>T (p.Cys174=) rs148417620 0.00008
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr) rs766292710 0.00008
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.246G>A (p.Leu82=) rs144015378 0.00005
NM_018941.4(CLN8):c.666G>A (p.Leu222=) rs532934034 0.00005
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) rs143694317 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.206C>T (p.Thr69Met) rs776409703 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 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.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.323C>T (p.Thr108Met) rs143701028 0.00001
NM_018941.4(CLN8):c.406G>T (p.Val136Phe) rs187297173 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.780G>A (p.Pro260=) rs761984333 0.00001
NM_018941.4(CLN8):c.843G>A (p.Leu281=) rs367703234 0.00001
NM_018941.4(CLN8):c.149A>G (p.Asn50Ser)
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr) rs998922998
NM_018941.4(CLN8):c.353A>G (p.Asn118Ser)
NM_018941.4(CLN8):c.544-6A>T
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
NM_018941.4(CLN8):c.700T>A (p.Phe234Ile) rs1563114301
NM_018941.4(CLN8):c.703del (p.Val236fs) rs761621368
NM_018941.4(CLN8):c.801G>T (p.Gln267His)
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
NM_018941.4(CLN8):c.92G>A (p.Gly31Asp) rs1366421988
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226

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