ClinVar Miner

List of variants reported as uncertain significance for Dyskeratosis congenita, autosomal dominant 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NR_001566.1(TERC):n.360C>G rs777348518 0.00006
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NR_001566.1(TERC):n.234C>T rs1032106566 0.00005
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NR_001566.1(TERC):n.351C>G rs925088948 0.00004
NR_001566.1(TERC):n.199C>T rs760168757 0.00003
NR_001566.1(TERC):n.37A>G rs199422261 0.00003
NR_001566.1(TERC):n.205C>T rs1192146620 0.00002
NR_001566.1(TERC):n.231C>T rs906136164 0.00002
NR_001566.1(TERC):n.24A>G rs766746392 0.00002
NR_001566.1(TERC):n.344C>T rs374793413 0.00002
NR_001566.1(TERC):n.357T>C rs569827301 0.00002
NR_001566.1(TERC):n.75C>T rs771988301 0.00002
NR_001566.1(TERC):n.11G>T rs1159032173 0.00001
NR_001566.1(TERC):n.140G>A rs1469879190 0.00001
NR_001566.1(TERC):n.150A>G rs781357040 0.00001
NR_001566.1(TERC):n.151C>T rs768990533 0.00001
NR_001566.1(TERC):n.157A>T rs1268597311 0.00001
NR_001566.1(TERC):n.160C>T rs747522689 0.00001
NR_001566.1(TERC):n.164A>C rs750837239 0.00001
NR_001566.1(TERC):n.165G>A rs367842608 0.00001
NR_001566.1(TERC):n.169A>G rs1439415851 0.00001
NR_001566.1(TERC):n.193G>A rs753227339 0.00001
NR_001566.1(TERC):n.196C>T rs573600318 0.00001
NR_001566.1(TERC):n.202T>C rs1277188982 0.00001
NR_001566.1(TERC):n.211C>T rs1346505603 0.00001
NR_001566.1(TERC):n.226C>T rs1367910897 0.00001
NR_001566.1(TERC):n.233G>A rs1325097452 0.00001
NR_001566.1(TERC):n.265C>T rs1167306715 0.00001
NR_001566.1(TERC):n.267C>T rs762111072 0.00001
NR_001566.1(TERC):n.280G>C rs776511480 0.00001
NR_001566.1(TERC):n.285A>G rs1777960434 0.00001
NR_001566.1(TERC):n.294C>T rs1254978694 0.00001
NR_001566.1(TERC):n.297C>T rs1206628752 0.00001
NR_001566.1(TERC):n.29T>A rs1336050074 0.00001
NR_001566.1(TERC):n.30G>A rs954091557 0.00001
NR_001566.1(TERC):n.321C>T rs747154095 0.00001
NR_001566.1(TERC):n.340A>C rs746192063 0.00001
NR_001566.1(TERC):n.359T>C rs753524068 0.00001
NR_001566.1(TERC):n.35C>T rs199422260 0.00001
NR_001566.1(TERC):n.363G>C rs1475263094 0.00001
NR_001566.1(TERC):n.36C>T rs1248582778 0.00001
NR_001566.1(TERC):n.382A>G rs1777958465 0.00001
NR_001566.1(TERC):n.390C>A rs1777958283 0.00001
NR_001566.1(TERC):n.395G>T rs1415109076 0.00001
NR_001566.1(TERC):n.397G>A rs767519425 0.00001
NR_001566.1(TERC):n.409C>T rs766203739 0.00001
NR_001566.1(TERC):n.415C>T rs762726864 0.00001
NR_001566.1(TERC):n.423C>T rs776902194 0.00001
NR_001566.1(TERC):n.430C>G rs1230531511 0.00001
NR_001566.1(TERC):n.431C>T rs1374142931 0.00001
NR_001566.1(TERC):n.432A>G rs1479831336 0.00001
NR_001566.1(TERC):n.44G>A rs763886920 0.00001
NR_001566.1(TERC):n.450G>A rs199422287 0.00001
NR_001566.1(TERC):n.451C>T rs1060502986 0.00001
NR_001566.1(TERC):n.55A>T rs1777964464 0.00001
NR_001566.1(TERC):n.93G>C rs745711557 0.00001
NC_000003.11:g.(?_169482388)_(170130102_?)dup
NC_000003.11:g.(?_169482398)_(169482848_?)dup
NC_000003.12:g.(?_169764590)_(169765080_?)dup
NC_000003.12:g.(?_169764600)_(169765070_?)dup
NC_000003.12:g.(?_169764600)_(169765159_?)dup
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963
NR_001566.1(TERC):n.104C>T rs1777963465
NR_001566.1(TERC):n.105T>A
NR_001566.1(TERC):n.106C>T
NR_001566.1(TERC):n.107G>C rs1553915617
NR_001566.1(TERC):n.108C>T
NR_001566.1(TERC):n.115T>G rs1777963295
NR_001566.1(TERC):n.116C>G
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.119C>T rs1021170574
NR_001566.1(TERC):n.121G>A
NR_001566.1(TERC):n.125del rs2108183234
NR_001566.1(TERC):n.128A>G rs1553915610
NR_001566.1(TERC):n.12G>A
NR_001566.1(TERC):n.130G>A rs2108183226
NR_001566.1(TERC):n.131C>T rs1414718271
NR_001566.1(TERC):n.132C>T rs1160164639
NR_001566.1(TERC):n.133T>C rs1777963007
NR_001566.1(TERC):n.134C>G rs1306157402
NR_001566.1(TERC):n.134C>T rs1306157402
NR_001566.1(TERC):n.13G>T rs1383902005
NR_001566.1(TERC):n.141C>T
NR_001566.1(TERC):n.142C>A rs1560578689
NR_001566.1(TERC):n.145C>T rs1777962706
NR_001566.1(TERC):n.148C>G rs2108183190
NR_001566.1(TERC):n.149C>T
NR_001566.1(TERC):n.152C>T rs1777962509
NR_001566.1(TERC):n.153G>A rs1211790833
NR_001566.1(TERC):n.153G>T rs1211790833
NR_001566.1(TERC):n.155T>G
NR_001566.1(TERC):n.156C>T rs887909084
NR_001566.1(TERC):n.162A>C rs1777962278
NR_001566.1(TERC):n.162A>G rs1777962278
NR_001566.1(TERC):n.163G>A rs758748876
NR_001566.1(TERC):n.163G>C
NR_001566.1(TERC):n.163G>T rs758748876
NR_001566.1(TERC):n.166C>A rs1303286129
NR_001566.1(TERC):n.176dup
NR_001566.1(TERC):n.177T>C
NR_001566.1(TERC):n.182G>C rs1777962078
NR_001566.1(TERC):n.183C>T rs1391283733
NR_001566.1(TERC):n.184T>C
NR_001566.1(TERC):n.18C>A
NR_001566.1(TERC):n.18C>T rs751824499
NR_001566.1(TERC):n.190C>T
NR_001566.1(TERC):n.191C>T rs756967332
NR_001566.1(TERC):n.192C>G
NR_001566.1(TERC):n.192C>T rs1383015695
NR_001566.1(TERC):n.197G>A rs763663847
NR_001566.1(TERC):n.198C>T rs1191661277
NR_001566.1(TERC):n.199C>A
NR_001566.1(TERC):n.19C>T
NR_001566.1(TERC):n.1G>C rs953309807
NR_001566.1(TERC):n.200C>T rs1777961769
NR_001566.1(TERC):n.201dup rs769251104
NR_001566.1(TERC):n.206G>A rs1445101144
NR_001566.1(TERC):n.209G>A rs1200725441
NR_001566.1(TERC):n.209G>C rs1200725441
NR_001566.1(TERC):n.209G>T rs1200725441
NR_001566.1(TERC):n.209dup rs2108183111
NR_001566.1(TERC):n.20T>C rs1060502987
NR_001566.1(TERC):n.20T>G
NR_001566.1(TERC):n.210A>C
NR_001566.1(TERC):n.211C>A
NR_001566.1(TERC):n.217G>C rs1553915599
NR_001566.1(TERC):n.218C>T
NR_001566.1(TERC):n.219G>A rs1277657900
NR_001566.1(TERC):n.21G>C
NR_001566.1(TERC):n.221G>C
NR_001566.1(TERC):n.221del
NR_001566.1(TERC):n.228G>T
NR_001566.1(TERC):n.229C>T
NR_001566.1(TERC):n.230C>T rs893587661
NR_001566.1(TERC):n.232A>C rs878855313
NR_001566.1(TERC):n.232dup
NR_001566.1(TERC):n.236C>G rs1777961092
NR_001566.1(TERC):n.238C>T rs1577384200
NR_001566.1(TERC):n.239G>A rs1016737019
NR_001566.1(TERC):n.241A>G rs537355285
NR_001566.1(TERC):n.242C>T rs1375071104
NR_001566.1(TERC):n.243C>T rs2108183041
NR_001566.1(TERC):n.244C>G
NR_001566.1(TERC):n.244C>T
NR_001566.1(TERC):n.245del rs1171775942
NR_001566.1(TERC):n.246G>A rs1377926219
NR_001566.1(TERC):n.247C>A
NR_001566.1(TERC):n.248del rs1777960875
NR_001566.1(TERC):n.251G>A rs2108183025
NR_001566.1(TERC):n.253G>A
NR_001566.1(TERC):n.255C>T rs2108183019
NR_001566.1(TERC):n.256C>T rs1777960849
NR_001566.1(TERC):n.258C>T rs1577384186
NR_001566.1(TERC):n.25G>T
NR_001566.1(TERC):n.261T>G
NR_001566.1(TERC):n.266C>T rs1777960682
NR_001566.1(TERC):n.268G>A rs2108182996
NR_001566.1(TERC):n.26G>A
NR_001566.1(TERC):n.26G>C
NR_001566.1(TERC):n.26G>T
NR_001566.1(TERC):n.26_27insC
NR_001566.1(TERC):n.270G>A rs1777960642
NR_001566.1(TERC):n.275C>T
NR_001566.1(TERC):n.276T>C
NR_001566.1(TERC):n.278C>T rs1777960566
NR_001566.1(TERC):n.279G>T
NR_001566.1(TERC):n.281A>G
NR_001566.1(TERC):n.282G>A rs1777960488
NR_001566.1(TERC):n.283G>T rs2108182963
NR_001566.1(TERC):n.284C>A
NR_001566.1(TERC):n.284C>T rs1577384177
NR_001566.1(TERC):n.286C>G
NR_001566.1(TERC):n.287C>A rs1777960407
NR_001566.1(TERC):n.287C>G
NR_001566.1(TERC):n.28G>A rs757982667
NR_001566.1(TERC):n.28G>C rs757982667
NR_001566.1(TERC):n.295A>G rs1297308302
NR_001566.1(TERC):n.296C>A rs2108182940
NR_001566.1(TERC):n.296C>T
NR_001566.1(TERC):n.298G>A rs2108182936
NR_001566.1(TERC):n.299C>T
NR_001566.1(TERC):n.29T>C rs1336050074
NR_001566.1(TERC):n.2G>A
NR_001566.1(TERC):n.303G>C
NR_001566.1(TERC):n.305G>C
NR_001566.1(TERC):n.306T>C
NR_001566.1(TERC):n.311C>G rs2108182925
NR_001566.1(TERC):n.317C>T rs2108182912
NR_001566.1(TERC):n.31G>A rs1446625124
NR_001566.1(TERC):n.31G>C
NR_001566.1(TERC):n.31G>T
NR_001566.1(TERC):n.327T>A
NR_001566.1(TERC):n.327T>C
NR_001566.1(TERC):n.327TC[2]
NR_001566.1(TERC):n.328del
NR_001566.1(TERC):n.32T>C
NR_001566.1(TERC):n.331T>C rs2108182899
NR_001566.1(TERC):n.332C>T
NR_001566.1(TERC):n.335G>T
NR_001566.1(TERC):n.337GCGAGG[3] rs1577384138
NR_001566.1(TERC):n.338C>T rs935100722
NR_001566.1(TERC):n.339G>A
NR_001566.1(TERC):n.339G>C rs772608895
NR_001566.1(TERC):n.340A>G rs746192063
NR_001566.1(TERC):n.341G>A rs1777959766
NR_001566.1(TERC):n.345G>T
NR_001566.1(TERC):n.346A>T rs1777959711
NR_001566.1(TERC):n.349T>A
NR_001566.1(TERC):n.349T>C rs2108182875
NR_001566.1(TERC):n.351C>T rs925088948
NR_001566.1(TERC):n.353G>C
NR_001566.1(TERC):n.355C>A
NR_001566.1(TERC):n.357T>A rs569827301
NR_001566.1(TERC):n.357_365del rs1415168771
NR_001566.1(TERC):n.359_361delinsAAG
NR_001566.1(TERC):n.35C>A rs199422260
NR_001566.1(TERC):n.360C>A rs777348518
NR_001566.1(TERC):n.360C>T rs777348518
NR_001566.1(TERC):n.362G>T rs1553915587
NR_001566.1(TERC):n.364C>G
NR_001566.1(TERC):n.365C>T
NR_001566.1(TERC):n.366G>T rs1560578577
NR_001566.1(TERC):n.367C>T
NR_001566.1(TERC):n.371A>G
NR_001566.1(TERC):n.373G>T rs1777958605
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.375G>A
NR_001566.1(TERC):n.37A>C rs199422261
NR_001566.1(TERC):n.37A>T rs199422261
NR_001566.1(TERC):n.380G>A
NR_001566.1(TERC):n.384C>T rs1777958436
NR_001566.1(TERC):n.385G>A
NR_001566.1(TERC):n.385G>C
NR_001566.1(TERC):n.389C>A
NR_001566.1(TERC):n.389C>T rs762378141
NR_001566.1(TERC):n.38T>A rs1488733250
NR_001566.1(TERC):n.391C>T rs1046452760
NR_001566.1(TERC):n.392C>A rs1777957949
NR_001566.1(TERC):n.393G>A
NR_001566.1(TERC):n.395G>A
NR_001566.1(TERC):n.396C>T rs1483089001
NR_001566.1(TERC):n.397G>C rs767519425
NR_001566.1(TERC):n.39T>C rs1777964782
NR_001566.1(TERC):n.3G>A rs1351896490
NR_001566.1(TERC):n.3G>C rs1351896490
NR_001566.1(TERC):n.401C>T rs759566601
NR_001566.1(TERC):n.404G>T rs2108182785
NR_001566.1(TERC):n.405A>G rs138034348
NR_001566.1(TERC):n.408C>T rs199422284
NR_001566.1(TERC):n.40T>G
NR_001566.1(TERC):n.410C>G rs199422286
NR_001566.1(TERC):n.424G>T rs1337708802
NR_001566.1(TERC):n.427C>T rs1777957096
NR_001566.1(TERC):n.42_43dup rs1350357211
NR_001566.1(TERC):n.431dup rs1777957000
NR_001566.1(TERC):n.432A>C rs1479831336
NR_001566.1(TERC):n.432A>T
NR_001566.1(TERC):n.433G>A
NR_001566.1(TERC):n.434G>A rs2108182735
NR_001566.1(TERC):n.439G>A rs1777956819
NR_001566.1(TERC):n.439G>C rs1777956819
NR_001566.1(TERC):n.43T>C
NR_001566.1(TERC):n.43T>G rs1553915624
NR_001566.1(TERC):n.43dup
NR_001566.1(TERC):n.440G>A rs2108182728
NR_001566.1(TERC):n.444A>G rs1560578539
NR_001566.1(TERC):n.446_449dup rs1777956725
NR_001566.1(TERC):n.449T>G rs2108182721
NR_001566.1(TERC):n.44G>T
NR_001566.1(TERC):n.450dup
NR_001566.1(TERC):n.45T>G
NR_001566.1(TERC):n.46C>G rs1330995437
NR_001566.1(TERC):n.46C>T rs1330995437
NR_001566.1(TERC):n.4T>A
NR_001566.1(TERC):n.54A>C rs1288561509
NR_001566.1(TERC):n.54A>G rs1288561509
NR_001566.1(TERC):n.55A>G
NR_001566.1(TERC):n.56C>G rs1777964433
NR_001566.1(TERC):n.57T>C rs1777964371
NR_001566.1(TERC):n.57_58del rs1777964336
NR_001566.1(TERC):n.58G>C rs113487931
NR_001566.1(TERC):n.60G>A rs1777964257
NR_001566.1(TERC):n.61A>G
NR_001566.1(TERC):n.62A>C rs1203113072
NR_001566.1(TERC):n.62A>G
NR_001566.1(TERC):n.62A>T
NR_001566.1(TERC):n.65G>A
NR_001566.1(TERC):n.65G>T rs2108183345
NR_001566.1(TERC):n.66C>A rs1577384356
NR_001566.1(TERC):n.66C>T rs1577384356
NR_001566.1(TERC):n.6G>A rs1777965825
NR_001566.1(TERC):n.71G>T rs1777964145
NR_001566.1(TERC):n.72C>T
NR_001566.1(TERC):n.74C>T
NR_001566.1(TERC):n.74_110del
NR_001566.1(TERC):n.75C>G rs771988301
NR_001566.1(TERC):n.76G>A
NR_001566.1(TERC):n.78G>T
NR_001566.1(TERC):n.7C>A rs781517281
NR_001566.1(TERC):n.7C>T
NR_001566.1(TERC):n.83T>C
NR_001566.1(TERC):n.83del rs1777963882
NR_001566.1(TERC):n.84G>A
NR_001566.1(TERC):n.85C>T
NR_001566.1(TERC):n.87C>G rs1777963818
NR_001566.1(TERC):n.87C>T
NR_001566.1(TERC):n.88C>A rs2108183299
NR_001566.1(TERC):n.88C>T rs2108183299
NR_001566.1(TERC):n.90C>A rs1560578729
NR_001566.1(TERC):n.90C>T
NR_001566.1(TERC):n.91G>T rs1777963764
NR_001566.1(TERC):n.94C>T rs1212628582
NR_001566.1(TERC):n.95G>C rs1777963668
NR_001566.1(TERC):n.96C>T rs1777963621
NR_001566.1(TERC):n.97T>G rs1777963567
NR_001566.1(TERC):n.99T>C

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