ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance for not provided

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032 0.00010
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056 0.00008
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) rs143928329 0.00004
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) rs141950483 0.00003
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119 0.00003
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.343G>A (p.Val115Met) rs762232673 0.00002
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NC_000015.10:g.68229774_68229793dup rs71145145
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg)
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.298-346G>T
NM_017882.3(CLN6):c.310T>C (p.Ser104Pro)
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) rs1555438696
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.622G>C (p.Gly208Arg) rs2141137242
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) rs886042709
NM_017882.3(CLN6):c.640G>T (p.Val214Leu) rs765491294
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser) rs1057520095
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu)
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) rs2141136125
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) rs950362413
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.797T>C (p.Phe266Ser) rs1064796180
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) rs796052359
NM_017882.3(CLN6):c.866A>G (p.Lys289Arg)
NM_017882.3(CLN6):c.875G>A (p.Gly292Asp) rs1399309224
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) rs1064796587

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