ClinVar Miner

List of variants in gene CLN6 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NM_017882.3(CLN6):c.-23G>A rs536088577
NM_017882.3(CLN6):c.-27C>A rs1024665053
NM_017882.3(CLN6):c.-29G>T rs1057523327
NM_017882.3(CLN6):c.-34G>A rs971420018
NM_017882.3(CLN6):c.-37C>T rs1001908044
NM_017882.3(CLN6):c.-5C>T rs796052347
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) rs147623032
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter) rs1057520571
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039
NM_017882.3(CLN6):c.198+181A>G rs59385667
NM_017882.3(CLN6):c.198+1G>A rs886039727
NM_017882.3(CLN6):c.199-252A>C rs6494721
NM_017882.3(CLN6):c.199-70G>A rs114850355
NM_017882.3(CLN6):c.213C>A (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
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.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.298-168C>T rs56883694
NM_017882.3(CLN6):c.298-196A>G rs61281446
NM_017882.3(CLN6):c.298-248G>A rs59951468
NM_017882.3(CLN6):c.298-6C>T rs117038427
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.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.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
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.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.486+2T>C rs796052355
NM_017882.3(CLN6):c.486+51C>T rs8024979
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-13G>A rs747926816
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-20C>T rs772189210
NM_017882.3(CLN6):c.487-39C>T rs116956347
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.542+212C>T rs111504155
NM_017882.3(CLN6):c.542+8A>G rs1555438612
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.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348
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.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665+265G>A rs11632516
NM_017882.3(CLN6):c.666-20C>T rs754129486
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
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.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
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.767A>G (p.Asp256Gly) rs143781303
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
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.799G>A (p.Ala267Thr) rs374613712
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) rs796052359
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_017882.3(CLN6):c.83+35C>G rs150630197
NM_017882.3(CLN6):c.84-18C>T rs201554701
NM_017882.3(CLN6):c.84-1G>A rs1064796787
NM_017882.3(CLN6):c.84-81C>T rs117298614
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala) rs753497587
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) rs1064796587
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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