ClinVar Miner

List of variants in gene combination LOC110806263, TERT reported as likely benign

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Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_198253.2(TERT):c.-218C>G rs34233268 0.00953
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_198253.3(TERT):c.129C>T (p.Asp43=) rs772537721 0.00006
NM_198253.3(TERT):c.219+37A>C rs754596246 0.00004
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.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.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.186A>G (p.Ala62=) rs1469467957 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.77C>T (p.Thr26Met) rs760727529 0.00001
NC_000005.10:g.1295344GC[2] rs34764648
NC_000005.10:g.1297372_1297373delinsAT rs2126700862
NM_198253.3(TERT):c.-174G>C
NM_198253.3(TERT):c.-3G>A
NM_198253.3(TERT):c.-5C>A
NM_198253.3(TERT):c.-83delC
NM_198253.3(TERT):c.102G>A (p.Gln34=) rs1751296255
NM_198253.3(TERT):c.105C>T (p.Gly35=)
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>T (p.Leu38=)
NM_198253.3(TERT):c.114G>T (p.Leu38=) rs1350421146
NM_198253.3(TERT):c.117G>A (p.Val39=) rs2126691987
NM_198253.3(TERT):c.123C>T (p.Arg41=) rs1436697048
NM_198253.3(TERT):c.126G>A (p.Gly42=)
NM_198253.3(TERT):c.126G>C (p.Gly42=) rs2126691882
NM_198253.3(TERT):c.132G>A (p.Pro44=) rs2126691830
NM_198253.3(TERT):c.135G>A (p.Ala45=)
NM_198253.3(TERT):c.135G>T (p.Ala45=)
NM_198253.3(TERT):c.138T>G (p.Ala46=)
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.156C>T (p.Ala52=) rs2126691625
NM_198253.3(TERT):c.159G>A (p.Gln53=)
NM_198253.3(TERT):c.163C>T (p.Leu55=)
NM_198253.3(TERT):c.165G>A (p.Leu55=)
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.183C>T (p.Asp61=) rs1579599141
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.195C>A (p.Pro65=)
NM_198253.3(TERT):c.198C>G (p.Pro66=)
NM_198253.3(TERT):c.198C>T (p.Pro66=) rs2126691411
NM_198253.3(TERT):c.207C>A (p.Pro69=)
NM_198253.3(TERT):c.210C>T (p.Ser70=) rs2126691359
NM_198253.3(TERT):c.213C>T (p.Phe71=)
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+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+20G>A rs1416634421
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.220-18A>G
NM_198253.3(TERT):c.220-19C>T
NM_198253.3(TERT):c.220-20del
NM_198253.3(TERT):c.220-5C>G
NM_198253.3(TERT):c.220-5C>T
NM_198253.3(TERT):c.220-7C>T rs1751274289
NM_198253.3(TERT):c.220-9C>T rs533701379
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.229C>T (p.Leu77=) rs1751271727
NM_198253.3(TERT):c.22C>A (p.Arg8=) rs1579599353
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.246C>G (p.Ala82=) rs1751270960
NM_198253.3(TERT):c.247C>A (p.Arg83=)
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.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.33C>A (p.Arg11=)
NM_198253.3(TERT):c.33C>T (p.Arg11=)
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>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>T (p.Leu14=) rs2126692794
NM_198253.3(TERT):c.51C>T (p.His17=)
NM_198253.3(TERT):c.54C>T (p.Tyr18=) rs1060504792
NM_198253.3(TERT):c.57C>T (p.Arg19=)
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.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.78G>C (p.Thr26=)
NM_198253.3(TERT):c.81C>T (p.Phe27=) rs1377361296
NM_198253.3(TERT):c.85C>A (p.Arg29=) rs1024973528
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.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>T (p.Arg3=) rs1329121371

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