ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance for Neuronal ceroid lipofuscinosis

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Gene type:
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Total variants: 147
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HGVS dbSNP
NC_000015.9:g.(?_68500478)_(68521922_?)dup
NM_017882.3(CLN6):c.*1023G>A
NM_017882.3(CLN6):c.*1103G>A rs147362516
NM_017882.3(CLN6):c.*1109G>A
NM_017882.3(CLN6):c.*131G>T rs556392570
NM_017882.3(CLN6):c.*175C>T rs886051444
NM_017882.3(CLN6):c.*179G>C rs886051443
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*246G>A rs886051441
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*284C>T
NM_017882.3(CLN6):c.*300C>T rs886051439
NM_017882.3(CLN6):c.*312C>T
NM_017882.3(CLN6):c.*345C>T
NM_017882.3(CLN6):c.*42T>G
NM_017882.3(CLN6):c.*446C>T
NM_017882.3(CLN6):c.*470C>T rs565006193
NM_017882.3(CLN6):c.*481T>G
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*532T>A rs886051437
NM_017882.3(CLN6):c.*69G>T rs761969677
NM_017882.3(CLN6):c.*749T>C
NM_017882.3(CLN6):c.*882C>T
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.*991C>A
NM_017882.3(CLN6):c.-101A>G
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.-22C>A rs886051448
NM_017882.3(CLN6):c.-38C>T
NM_017882.3(CLN6):c.-92C>T
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly)
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)
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.124C>G (p.Pro42Ala)
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser)
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe)
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln)
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg)
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.199C>G (p.Leu67Val)
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu)
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg)
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys)
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys)
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) rs1595819607
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601
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.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) rs777921628
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu)
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.317G>A (p.Arg106His)
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys)
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala)
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) rs1217014085
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.340T>C (p.Tyr114His)
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly)
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.355A>G (p.Ile119Val)
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile)
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu)
NM_017882.3(CLN6):c.365T>C (p.Met122Thr)
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.3G>A (p.Met1Ile)
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser)
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268
NM_017882.3(CLN6):c.431A>G (p.His144Arg)
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) rs1057524348
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg)
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile)
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-3C>G
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) rs1595818025
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser)
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.547A>G (p.Ile183Val)
NM_017882.3(CLN6):c.553T>G (p.Phe185Val)
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) rs764670832
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) rs747575187
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser)
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) rs916017530
NM_017882.3(CLN6):c.61_62insCGG (p.Gly21_Ala22insAla) rs878855040
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) rs751562146
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)
NM_017882.3(CLN6):c.653G>T (p.Gly218Val)
NM_017882.3(CLN6):c.666-3C>T
NM_017882.3(CLN6):c.666-5T>A rs1401270931
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn)
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.719C>T (p.Ala240Val)
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.730C>G (p.Leu244Val)
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441
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.828G>T (p.Trp276Cys)
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp)
NM_017882.3(CLN6):c.83+11G>A
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) rs369715206
NM_017882.3(CLN6):c.919G>T (p.Val307Phe)
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670
NM_017882.3(CLN6):c.94G>C (p.Val32Leu)

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