ClinVar Miner

List of variants in gene LOC110806263, TERT studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.1295234A>G rs2853669 0.24174
NC_000005.10:g.1297373C>T rs2736108 0.23298
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198253.3(TERT):c.129C>T (p.Asp43=) rs772537721 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.144C>T (p.Arg48=) rs746281705 0.00002
NM_198253.3(TERT):c.146C>G (p.Ala49Gly) rs1060503013 0.00002
NM_198253.3(TERT):c.222G>A (p.Val74=) rs373356928 0.00002
NM_198253.3(TERT):c.45C>T (p.Arg15=) rs750133706 0.00002
NM_198253.3(TERT):c.12T>C (p.Ala4=) rs1060504797 0.00001
NM_198253.3(TERT):c.146C>T (p.Ala49Val) rs1060503013 0.00001
NM_198253.3(TERT):c.148C>T (p.Leu50=) rs1241180227 0.00001
NM_198253.3(TERT):c.171C>T (p.Cys57=) rs1189644919 0.00001
NM_198253.3(TERT):c.174G>A (p.Val58=) rs1054748675 0.00001
NM_198253.3(TERT):c.175C>T (p.Pro59Ser) rs1446206464 0.00001
NM_198253.3(TERT):c.186A>G (p.Ala62=) rs1469467957 0.00001
NM_198253.3(TERT):c.188G>A (p.Arg63Gln) rs1336720402 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.21C>T (p.Cys7=) rs1447706663 0.00001
NM_198253.3(TERT):c.220-8C>T rs1579598909 0.00001
NM_198253.3(TERT):c.76A>G (p.Thr26Ala) rs1579599309 0.00001
NM_198253.3(TERT):c.77C>T (p.Thr26Met) rs760727529 0.00001
NC_000005.10:g.1297372_1297373delinsAT rs2126700862
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198253.3(TERT):c.-57A>G rs878855297
NM_198253.3(TERT):c.-57A>T
NM_198253.3(TERT):c.-57del rs1751310344
NM_198253.3(TERT):c.101A>C (p.Gln34Pro)
NM_198253.3(TERT):c.102G>A (p.Gln34=) rs1751296255
NM_198253.3(TERT):c.104G>A (p.Gly35Asp) rs2126692114
NM_198253.3(TERT):c.104G>T (p.Gly35Val)
NM_198253.3(TERT):c.105C>T (p.Gly35=)
NM_198253.3(TERT):c.109C>G (p.Arg37Gly) rs2126692072
NM_198253.3(TERT):c.10G>C (p.Ala4Pro) rs1579599369
NM_198253.3(TERT):c.10_11dup (p.Pro5fs) rs2126693109
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.110G>C (p.Arg37Pro)
NM_198253.3(TERT):c.110G>T (p.Arg37Leu)
NM_198253.3(TERT):c.111G>A (p.Arg37=) rs1751295827
NM_198253.3(TERT):c.111G>T (p.Arg37=)
NM_198253.3(TERT):c.112C>A (p.Leu38Met) rs1004308241
NM_198253.3(TERT):c.112C>T (p.Leu38=)
NM_198253.3(TERT):c.114G>A (p.Leu38=)
NM_198253.3(TERT):c.114G>T (p.Leu38=) rs1350421146
NM_198253.3(TERT):c.115G>T (p.Val39Leu) rs1751294892
NM_198253.3(TERT):c.117G>A (p.Val39=) rs2126691987
NM_198253.3(TERT):c.119A>T (p.Gln40Leu) rs1751294652
NM_198253.3(TERT):c.120G>C (p.Gln40His) rs1751294429
NM_198253.3(TERT):c.121C>G (p.Arg41Gly)
NM_198253.3(TERT):c.121C>T (p.Arg41Cys)
NM_198253.3(TERT):c.123C>T (p.Arg41=) rs1436697048
NM_198253.3(TERT):c.124G>A (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.126G>A (p.Gly42=)
NM_198253.3(TERT):c.126G>C (p.Gly42=) rs2126691882
NM_198253.3(TERT):c.127G>A (p.Asp43Asn) rs1579599236
NM_198253.3(TERT):c.131C>T (p.Pro44Leu) rs2126691833
NM_198253.3(TERT):c.131dup (p.Ala45fs)
NM_198253.3(TERT):c.132G>A (p.Pro44=) rs2126691830
NM_198253.3(TERT):c.134C>T (p.Ala45Val)
NM_198253.3(TERT):c.135G>A (p.Ala45=)
NM_198253.3(TERT):c.135G>T (p.Ala45=)
NM_198253.3(TERT):c.136G>A (p.Ala46Thr) rs1579599228
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.138T>G (p.Ala46=)
NM_198253.3(TERT):c.13C>A (p.Pro5Thr)
NM_198253.3(TERT):c.142C>G (p.Arg48Gly) rs1554043151
NM_198253.3(TERT):c.142C>T (p.Arg48Cys) rs1554043151
NM_198253.3(TERT):c.143G>A (p.Arg48His) rs1751291943
NM_198253.3(TERT):c.145G>C (p.Ala49Pro)
NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)
NM_198253.3(TERT):c.147G>A (p.Ala49=) rs1279270618
NM_198253.3(TERT):c.147G>T (p.Ala49=) rs1279270618
NM_198253.3(TERT):c.153G>A (p.Val51=) rs1554043143
NM_198253.3(TERT):c.154G>A (p.Ala52Thr) rs1751290167
NM_198253.3(TERT):c.155C>T (p.Ala52Val) rs1751289980
NM_198253.3(TERT):c.156C>T (p.Ala52=) rs2126691625
NM_198253.3(TERT):c.159G>A (p.Gln53=)
NM_198253.3(TERT):c.160T>A (p.Cys54Ser)
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr) rs2126691594
NM_198253.3(TERT):c.162C>A (p.Cys54Ter) rs1751289309
NM_198253.3(TERT):c.162C>T (p.Cys54=)
NM_198253.3(TERT):c.163C>T (p.Leu55=)
NM_198253.3(TERT):c.165G>A (p.Leu55=)
NM_198253.3(TERT):c.167T>A (p.Val56Glu)
NM_198253.3(TERT):c.16C>G (p.Arg6Gly) rs1751302097
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
NM_198253.3(TERT):c.172G>C (p.Val58Leu) rs1751288465
NM_198253.3(TERT):c.174G>T (p.Val58=) rs1054748675
NM_198253.3(TERT):c.177C>A (p.Pro59=)
NM_198253.3(TERT):c.177C>G (p.Pro59=)
NM_198253.3(TERT):c.180G>A (p.Trp60Ter) rs1554043139
NM_198253.3(TERT):c.180G>C (p.Trp60Cys) rs1554043139
NM_198253.3(TERT):c.182A>G (p.Asp61Gly)
NM_198253.3(TERT):c.183C>T (p.Asp61=) rs1579599141
NM_198253.3(TERT):c.184G>T (p.Ala62Ser) rs2126691502
NM_198253.3(TERT):c.185C>A (p.Ala62Glu)
NM_198253.3(TERT):c.185C>G (p.Ala62Gly)
NM_198253.3(TERT):c.189G>C (p.Arg63=)
NM_198253.3(TERT):c.191C>T (p.Pro64Leu) rs1751286367
NM_198253.3(TERT):c.192G>A (p.Pro64=) rs930445607
NM_198253.3(TERT):c.192G>C (p.Pro64=) rs930445607
NM_198253.3(TERT):c.192G>T (p.Pro64=)
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.3(TERT):c.195C>A (p.Pro65=)
NM_198253.3(TERT):c.195C>T (p.Pro65=)
NM_198253.3(TERT):c.196C>T (p.Pro66Ser) rs2126691433
NM_198253.3(TERT):c.198C>G (p.Pro66=)
NM_198253.3(TERT):c.198C>T (p.Pro66=) rs2126691411
NM_198253.3(TERT):c.198dup (p.Ala67fs) rs2126691416
NM_198253.3(TERT):c.199G>C (p.Ala67Pro) rs2126691405
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_198253.3(TERT):c.202G>A (p.Ala68Thr)
NM_198253.3(TERT):c.202G>T (p.Ala68Ser) rs1038954321
NM_198253.3(TERT):c.203C>T (p.Ala68Val) rs1421869855
NM_198253.3(TERT):c.206C>T (p.Pro69Leu)
NM_198253.3(TERT):c.207C>A (p.Pro69=)
NM_198253.3(TERT):c.20G>A (p.Cys7Tyr) rs1751301663
NM_198253.3(TERT):c.210C>T (p.Ser70=) rs2126691359
NM_198253.3(TERT):c.213C>T (p.Phe71=)
NM_198253.3(TERT):c.214C>T (p.Arg72Cys) rs943289163
NM_198253.3(TERT):c.216C>A (p.Arg72=)
NM_198253.3(TERT):c.216C>T (p.Arg72=) rs2126691332
NM_198253.3(TERT):c.219+10C>G rs1579599045
NM_198253.3(TERT):c.219+12C>G rs1751282971
NM_198253.3(TERT):c.219+12C>T
NM_198253.3(TERT):c.219+13G>A rs1751282799
NM_198253.3(TERT):c.219+14G>A
NM_198253.3(TERT):c.219+14G>C rs1469244031
NM_198253.3(TERT):c.219+15G>A
NM_198253.3(TERT):c.219+16G>A rs2126691259
NM_198253.3(TERT):c.219+18C>T rs1751282294
NM_198253.3(TERT):c.219+19G>A
NM_198253.3(TERT):c.219+19G>C
NM_198253.3(TERT):c.219+19_219+20insGAG rs2126691250
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.219+20G>A rs1416634421
NM_198253.3(TERT):c.219+2T>A
NM_198253.3(TERT):c.219+3G>A rs2126691323
NM_198253.3(TERT):c.219+6C>A rs1751283546
NM_198253.3(TERT):c.219+7C>A rs573817924
NM_198253.3(TERT):c.219+9C>T rs2126691300
NM_198253.3(TERT):c.220-12C>G
NM_198253.3(TERT):c.220-13G>A rs1452360898
NM_198253.3(TERT):c.220-13G>C rs1452360898
NM_198253.3(TERT):c.220-14C>T
NM_198253.3(TERT):c.220-15G>A
NM_198253.3(TERT):c.220-18A>G
NM_198253.3(TERT):c.220-19C>T
NM_198253.3(TERT):c.220-20del
NM_198253.3(TERT):c.220-3C>T rs774658501
NM_198253.3(TERT):c.220-5C>G
NM_198253.3(TERT):c.220-5C>T
NM_198253.3(TERT):c.220-5dup
NM_198253.3(TERT):c.220-6C>T
NM_198253.3(TERT):c.220-7C>T rs1751274289
NM_198253.3(TERT):c.220-9C>T rs533701379
NM_198253.3(TERT):c.221T>A (p.Val74Glu) rs1751273218
NM_198253.3(TERT):c.222G>C (p.Val74=)
NM_198253.3(TERT):c.225C>A (p.Ser75=) rs1751272539
NM_198253.3(TERT):c.225C>T (p.Ser75=) rs1751272539
NM_198253.3(TERT):c.227G>C (p.Cys76Ser) rs1192287561
NM_198253.3(TERT):c.229C>G (p.Leu77Val) rs1751271727
NM_198253.3(TERT):c.229C>T (p.Leu77=) rs1751271727
NM_198253.3(TERT):c.22C>A (p.Arg8=) rs1579599353
NM_198253.3(TERT):c.22C>G (p.Arg8Gly) rs1579599353
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.233A>G (p.Lys78Arg)
NM_198253.3(TERT):c.234G>A (p.Lys78=)
NM_198253.3(TERT):c.237G>A (p.Glu79=)
NM_198253.3(TERT):c.238C>T (p.Leu80=) rs2126690855
NM_198253.3(TERT):c.23G>A (p.Arg8Gln)
NM_198253.3(TERT):c.23G>T (p.Arg8Leu)
NM_198253.3(TERT):c.246C>G (p.Ala82=) rs1751270960
NM_198253.3(TERT):c.246C>T (p.Ala82=)
NM_198253.3(TERT):c.247C>A (p.Arg83=)
NM_198253.3(TERT):c.247C>T (p.Arg83Ter) rs867642414
NM_198253.3(TERT):c.248G>C (p.Arg83Pro)
NM_198253.3(TERT):c.248G>T (p.Arg83Leu)
NM_198253.3(TERT):c.249A>C (p.Arg83=)
NM_198253.3(TERT):c.24A>G (p.Arg8=) rs2126692983
NM_198253.3(TERT):c.252G>C (p.Val84=)
NM_198253.3(TERT):c.253C>T (p.Leu85=)
NM_198253.3(TERT):c.26C>T (p.Ala9Val)
NM_198253.3(TERT):c.27C>A (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.27C>G (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.27C>T (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.32G>C (p.Arg11Pro)
NM_198253.3(TERT):c.33C>A (p.Arg11=)
NM_198253.3(TERT):c.33C>T (p.Arg11=)
NM_198253.3(TERT):c.34T>C (p.Ser12Pro)
NM_198253.3(TERT):c.36C>A (p.Ser12=)
NM_198253.3(TERT):c.36C>T (p.Ser12=) rs2126692838
NM_198253.3(TERT):c.37C>G (p.Leu13Val)
NM_198253.3(TERT):c.37C>T (p.Leu13=) rs2126692825
NM_198253.3(TERT):c.39G>C (p.Leu13=)
NM_198253.3(TERT):c.39G>T (p.Leu13=) rs1465590201
NM_198253.3(TERT):c.40C>A (p.Leu14Met)
NM_198253.3(TERT):c.40C>T (p.Leu14=) rs2126692794
NM_198253.3(TERT):c.46A>G (p.Ser16Gly)
NM_198253.3(TERT):c.47G>A (p.Ser16Asn)
NM_198253.3(TERT):c.49C>T (p.His17Tyr)
NM_198253.3(TERT):c.4C>A (p.Pro2Thr) rs1751303585
NM_198253.3(TERT):c.4C>G (p.Pro2Ala) rs1751303585
NM_198253.3(TERT):c.51C>G (p.His17Gln)
NM_198253.3(TERT):c.51C>T (p.His17=)
NM_198253.3(TERT):c.54C>T (p.Tyr18=) rs1060504792
NM_198253.3(TERT):c.55C>G (p.Arg19Gly)
NM_198253.3(TERT):c.56G>T (p.Arg19Leu)
NM_198253.3(TERT):c.57C>T (p.Arg19=)
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
NM_198253.3(TERT):c.58G>C (p.Glu20Gln) rs2126692596
NM_198253.3(TERT):c.5C>G (p.Pro2Arg) rs1751303315
NM_198253.3(TERT):c.5C>T (p.Pro2Leu) rs1751303315
NM_198253.3(TERT):c.60G>A (p.Glu20=) rs1751299200
NM_198253.3(TERT):c.64C>T (p.Leu22=)
NM_198253.3(TERT):c.66G>A (p.Leu22=) rs2126692522
NM_198253.3(TERT):c.67C>T (p.Pro23Ser)
NM_198253.3(TERT):c.68C>A (p.Pro23Gln)
NM_198253.3(TERT):c.69G>T (p.Pro23=)
NM_198253.3(TERT):c.6G>A (p.Pro2=)
NM_198253.3(TERT):c.6G>C (p.Pro2=)
NM_198253.3(TERT):c.6G>T (p.Pro2=)
NM_198253.3(TERT):c.75C>A (p.Ala25=) rs2126692441
NM_198253.3(TERT):c.77C>A (p.Thr26Lys) rs760727529
NM_198253.3(TERT):c.78G>C (p.Thr26=)
NM_198253.3(TERT):c.81C>T (p.Phe27=) rs1377361296
NM_198253.3(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.3(TERT):c.83T>G (p.Val28Gly) rs1561215157
NM_198253.3(TERT):c.85C>A (p.Arg29=) rs1024973528
NM_198253.3(TERT):c.88C>G (p.Arg30Gly)
NM_198253.3(TERT):c.89_98del (p.Arg30fs)
NM_198253.3(TERT):c.8G>C (p.Arg3Pro) rs2126693146
NM_198253.3(TERT):c.90C>G (p.Arg30=) rs776045913
NM_198253.3(TERT):c.90C>T (p.Arg30=) rs776045913
NM_198253.3(TERT):c.98C>T (p.Pro33Leu) rs2126692176
NM_198253.3(TERT):c.99C>A (p.Pro33=)
NM_198253.3(TERT):c.99C>G (p.Pro33=)
NM_198253.3(TERT):c.99C>T (p.Pro33=)
NM_198253.3(TERT):c.9C>G (p.Arg3=)
NM_198253.3(TERT):c.9C>T (p.Arg3=) rs1329121371

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