ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
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.316C>T (p.Arg106Cys) rs202226970 0.00007
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) rs1017662486 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.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00005
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996 0.00005
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911 0.00005
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.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00003
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876 0.00003
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) rs373652272 0.00003
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) rs1418418672 0.00002
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00002
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.666-3C>T rs761161043 0.00002
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp) rs773087251 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) rs369041224 0.00002
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) rs1226528243 0.00001
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) rs964241858 0.00001
NM_017882.3(CLN6):c.190A>G (p.Ile64Val) rs766280255 0.00001
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) rs759935979 0.00001
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) rs199658226 0.00001
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 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.311C>A (p.Ser104Tyr) rs777921628 0.00001
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) rs769747737 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) rs796052353 0.00001
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) rs2093262694 0.00001
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085 0.00001
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00001
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) rs1211135399 0.00001
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) rs2093206402 0.00001
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) rs759241838 0.00001
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) rs1433821186 0.00001
NM_017882.3(CLN6):c.364A>G (p.Met122Val) rs1435752034 0.00001
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484 0.00001
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser) rs1428305686 0.00001
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe) rs2093206049 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe) rs1419903827 0.00001
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) rs777142645 0.00001
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187 0.00001
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) rs777459938 0.00001
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) rs796052357 0.00001
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530 0.00001
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) rs1469917052 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) rs950362413 0.00001
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) rs1274562752 0.00001
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser) rs1287447955 0.00001
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) rs771007065 0.00001
NM_017882.3(CLN6):c.83+15G>A rs1460250176 0.00001
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206 0.00001
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn) rs1370379616 0.00001
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) rs781449103 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser) rs2505421906
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) rs142260866
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) rs142260866
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) rs769199442
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) rs1003606439
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr) rs2505421798
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) rs2093262797
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) rs2093226926
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr) rs2505421761
NM_017882.3(CLN6):c.179T>C (p.Phe60Ser)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.196A>G (p.Met66Val) rs1430705796
NM_017882.3(CLN6):c.198+3G>C rs2505421646
NM_017882.3(CLN6):c.198+5G>A rs2505421637
NM_017882.3(CLN6):c.199-12T>G rs2505415072
NM_017882.3(CLN6):c.202G>C (p.Val68Leu) rs1178740738
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) rs1450871754
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) rs104894483
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) rs776974644
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) rs2093214490
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) rs2141141464
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys) rs145247814
NM_017882.3(CLN6):c.276C>G (p.Ile92Met) rs2505414755
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser) rs1207005496
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) rs1457277891
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.297G>C (p.Lys99Asn) rs1275614219
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly) rs202226970
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) rs140179213
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) rs1362402324
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) rs148547876
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) rs2093206265
NM_017882.3(CLN6):c.366G>C (p.Met122Ile) rs2505409502
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) rs2141139324
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser) rs2093206190
NM_017882.3(CLN6):c.403C>G (p.His135Asp) rs1449019695
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) rs2093262651
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln) rs2505409264
NM_017882.3(CLN6):c.431A>G (p.His144Arg) rs1595818258
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) rs2141139183
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro) rs2093204374
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) rs2093204354
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) rs796052360
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) rs916824303
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu) rs2093199296
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) rs2093199272
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) rs2141137304
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) rs763059017
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu) rs2505404339
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.57G>C (p.Gln19His) rs2093262571
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) rs2141137255
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) rs2141137247
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) rs878855040
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) rs2141137239
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) rs1064794559
NM_017882.3(CLN6):c.640G>A (p.Val214Met) rs765491294
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) rs1160988895
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) rs1160988895
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) rs2093194324
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp) rs2505401877
NM_017882.3(CLN6):c.685C>G (p.Gln229Glu) rs1567094703
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr) rs2505441873
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) rs2141136135
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.730C>G (p.Leu244Val) rs2093194059
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr) rs1567094654
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) rs1274562752
NM_017882.3(CLN6):c.77A>G (p.Gln26Arg)
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu) rs2505401519
NM_017882.3(CLN6):c.814C>G (p.Leu272Val) rs755397770
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) rs2093193718
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) rs2093262448
NM_017882.3(CLN6):c.83+6C>T rs1416137982
NM_017882.3(CLN6):c.838C>A (p.Leu280Met) rs2505401332
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) rs1239948245
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) rs2141135931
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala) rs1399309224
NM_017882.3(CLN6):c.915del (p.His306fs) rs2505401039
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) rs146801142
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) rs2141135839
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) rs762916725
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) rs762916725
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) rs2141145171
NM_017882.3(CLN6):c.95T>G (p.Val32Gly) rs2505421974

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