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: 52
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HGVS dbSNP
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) rs774238261
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) rs1555438696
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) rs141950483
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
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.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) rs950362413
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
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.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) rs796052359
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) rs1064796587
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
Single allele

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