ClinVar Miner

List of variants reported as likely benign for DKC1-related disorder by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979 0.00127
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_001082486.2(ACD):c.645+17G>A rs148412951 0.00044
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614 0.00042
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) rs200330629 0.00039
NM_001082486.2(ACD):c.1152G>A (p.Pro384=) rs147116458 0.00019
NM_001082486.2(ACD):c.837G>A (p.Pro279=) rs201965477 0.00016
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965 0.00015
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) rs183344879 0.00014
NM_001082486.2(ACD):c.493+7T>C rs199626332 0.00008
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) rs199507509 0.00008
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) rs768273057 0.00006
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) rs199758910 0.00005
NM_001082486.1(ACD):c.78C>T (p.Ser26=) rs142762905 0.00004
NM_001082486.1(ACD):c.9C>G (p.Gly3=) rs201685459 0.00004
NM_001082486.2(ACD):c.1207-8C>T rs201192255 0.00004
NM_001082486.2(ACD):c.242+7G>A rs368510441 0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=) rs755523137 0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=) rs751515020 0.00004
NM_001082486.2(ACD):c.876C>T (p.Thr292=) rs372485172 0.00004
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) rs746144334 0.00004
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) rs774530909 0.00004
NM_001082486.1(ACD):c.27C>T (p.Ala9=) rs780167082 0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=) rs769298187 0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=) rs751284994 0.00003
NM_001082486.2(ACD):c.242+13dup rs774149870 0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=) rs146942923 0.00003
NM_001082486.2(ACD):c.337-14C>T rs765992071 0.00003
NM_001082486.2(ACD):c.829+11G>A rs778449742 0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=) rs1459307216 0.00003
NM_001082486.1(ACD):c.102A>C (p.Arg34=) rs773306733 0.00002
NM_001082486.1(ACD):c.84T>C (p.Ser28=) rs753040978 0.00002
NM_001082486.2(ACD):c.1314C>T (p.Leu438=) rs528476326 0.00002
NM_001082486.2(ACD):c.1320C>T (p.Ala440=) rs765091780 0.00002
NM_001082486.2(ACD):c.159C>T (p.Asp53=) rs761226246 0.00002
NM_001082486.2(ACD):c.413+9T>C rs774274068 0.00002
NM_001082486.2(ACD):c.459-18G>A rs1449515028 0.00002
NM_001082486.2(ACD):c.609T>C (p.Pro203=) rs752926001 0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=) rs375866577 0.00002
NM_001082486.2(ACD):c.743-14C>T rs781614614 0.00002
NM_001082486.2(ACD):c.743-17C>T rs746257998 0.00002
NM_001082486.2(ACD):c.99+20C>T rs751731124 0.00002
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) rs760179150 0.00002
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) rs144459176 0.00002
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) rs574323645 0.00002
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) rs773997509 0.00002
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) rs750879802 0.00002
NM_001082486.1(ACD):c.174G>A (p.Lys58=) rs780457506 0.00001
NM_001082486.2(ACD):c.-1G>C rs1432567553 0.00001
NM_001082486.2(ACD):c.-37C>T rs1377497479 0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=) rs372195324 0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=) rs776364958 0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=) rs756189227 0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=) rs1371779126 0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=) rs370757729 0.00001
NM_001082486.2(ACD):c.1299-16G>A rs746378955 0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=) rs1032620777 0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=) rs998982026 0.00001
NM_001082486.2(ACD):c.242+8G>A rs1402954442 0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=) rs752019137 0.00001
NM_001082486.2(ACD):c.337-10A>C rs566079044 0.00001
NM_001082486.2(ACD):c.414-5C>A rs372700670 0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=) rs777238079 0.00001
NM_001082486.2(ACD):c.494-10_494-9del rs1190418028 0.00001
NM_001082486.2(ACD):c.494-11C>T rs368882788 0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=) rs374438854 0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=) rs780267725 0.00001
NM_001082486.2(ACD):c.696T>C (p.Asn232=) rs544679646 0.00001
NM_001082486.2(ACD):c.711G>T (p.Leu237=) rs1212715141 0.00001
NM_001082486.2(ACD):c.743-4C>A rs1455941784 0.00001
NM_001082486.2(ACD):c.829+10T>C rs1332514211 0.00001
NM_001082486.2(ACD):c.830-12C>T rs748678952 0.00001
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) rs34713392 0.00001
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) rs768672121 0.00001
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) rs1558110685 0.00001
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) rs760666458 0.00001
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) rs762552451 0.00001
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) rs1421095735 0.00001
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) rs771842799 0.00001
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) rs747335906 0.00001
NC_000016.10:g.67660284T>C rs2142976427
NM_001082486.1(ACD):c.102A>G (p.Arg34=)
NM_001082486.1(ACD):c.123G>A (p.Gln41=) rs974748354
NM_001082486.1(ACD):c.132T>C (p.Gly44=)
NM_001082486.1(ACD):c.135A>T (p.Val45=) rs1567643005
NM_001082486.1(ACD):c.138T>C (p.Arg46=)
NM_001082486.1(ACD):c.150C>A (p.Leu50=)
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
NM_001082486.1(ACD):c.157C>A (p.Arg53=) rs773291286
NM_001082486.1(ACD):c.183T>C (p.Pro61=) rs2052981802
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
NM_001082486.1(ACD):c.60A>C (p.Ala20=)
NM_001082486.1(ACD):c.66G>C (p.Ala22=) rs766076324
NM_001082486.1(ACD):c.69G>A (p.Gly23=) rs554258142
NM_001082486.1(ACD):c.69G>C (p.Gly23=)
NM_001082486.1(ACD):c.87G>A (p.Leu29=) rs1295714510
NM_001082486.1(ACD):c.90C>T (p.His30=) rs2052986707
NM_001082486.1(ACD):c.96C>A (p.Gly32=) rs574891736
NM_001082486.1(ACD):c.96C>G (p.Gly32=) rs574891736
NM_001082486.1(ACD):c.96C>T (p.Gly32=)
NM_001082486.2(ACD):c.-16G>C
NM_001082486.2(ACD):c.-19G>T
NM_001082486.2(ACD):c.-31C>A rs775903443
NM_001082486.2(ACD):c.-31C>T
NM_001082486.2(ACD):c.-34G>C
NM_001082486.2(ACD):c.100-12C>T
NM_001082486.2(ACD):c.100-15G>A
NM_001082486.2(ACD):c.100-15G>C
NM_001082486.2(ACD):c.100-15G>T rs747553547
NM_001082486.2(ACD):c.100-16C>T
NM_001082486.2(ACD):c.100-19C>T
NM_001082486.2(ACD):c.100-6C>T rs1597774112
NM_001082486.2(ACD):c.100-9C>T
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
NM_001082486.2(ACD):c.1074C>T (p.His358=)
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
NM_001082486.2(ACD):c.114C>T (p.Ala38=) rs756189227
NM_001082486.2(ACD):c.1206+10G>C
NM_001082486.2(ACD):c.1206+10del rs2052907559
NM_001082486.2(ACD):c.1206+18G>A
NM_001082486.2(ACD):c.1206+8T>C
NM_001082486.2(ACD):c.1207-18A>G
NM_001082486.2(ACD):c.1224T>C (p.His408=)
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
NM_001082486.2(ACD):c.1293T>C (p.Ala431=) rs1597767407
NM_001082486.2(ACD):c.1298+17G>A
NM_001082486.2(ACD):c.1298+9C>T rs776494951
NM_001082486.2(ACD):c.1299-14T>C rs1413270785
NM_001082486.2(ACD):c.1299-4C>T rs1597767023
NM_001082486.2(ACD):c.1332C>T (p.His444=)
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
NM_001082486.2(ACD):c.174G>A (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
NM_001082486.2(ACD):c.18G>A (p.Arg6=) rs779383442
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
NM_001082486.2(ACD):c.201C>T (p.Val67=) rs1428575354
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
NM_001082486.2(ACD):c.243-13C>T
NM_001082486.2(ACD):c.243-14C>G rs531965174
NM_001082486.2(ACD):c.243-14C>T
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
NM_001082486.2(ACD):c.283C>T (p.Leu95=) rs2142974673
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
NM_001082486.2(ACD):c.303C>T (p.Cys101=) rs2142974629
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
NM_001082486.2(ACD):c.336+8G>A
NM_001082486.2(ACD):c.336+8G>T
NM_001082486.2(ACD):c.337-12G>A rs1021416366
NM_001082486.2(ACD):c.337-16C>G
NM_001082486.2(ACD):c.337-17C>T rs1186068061
NM_001082486.2(ACD):c.337-20T>G rs1567641944
NM_001082486.2(ACD):c.337-5_337-3del
NM_001082486.2(ACD):c.394C>A (p.Arg132=) rs2052957232
NM_001082486.2(ACD):c.405G>A (p.Val135=)
NM_001082486.2(ACD):c.413+11C>T
NM_001082486.2(ACD):c.413+7G>A rs1017802690
NM_001082486.2(ACD):c.413+9T>A
NM_001082486.2(ACD):c.414-16C>A rs1363142172
NM_001082486.2(ACD):c.414-17C>G rs1291861643
NM_001082486.2(ACD):c.414-7T>C
NM_001082486.2(ACD):c.414-9T>G
NM_001082486.2(ACD):c.458+20C>T
NM_001082486.2(ACD):c.459-12C>G
NM_001082486.2(ACD):c.459-14C>T rs2142972775
NM_001082486.2(ACD):c.459-16C>T rs1422483519
NM_001082486.2(ACD):c.459-4G>A
NM_001082486.2(ACD):c.459-4G>T
NM_001082486.2(ACD):c.459-5T>C rs367821436
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
NM_001082486.2(ACD):c.493+10A>C
NM_001082486.2(ACD):c.493+16A>G
NM_001082486.2(ACD):c.493+19A>G
NM_001082486.2(ACD):c.494-19C>T rs749224903
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
NM_001082486.2(ACD):c.558G>A (p.Val186=)
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
NM_001082486.2(ACD):c.583C>T (p.Leu195=) rs2142971297
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
NM_001082486.2(ACD):c.612C>T (p.Val204=)
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
NM_001082486.2(ACD):c.645+16T>C
NM_001082486.2(ACD):c.645+16T>G
NM_001082486.2(ACD):c.645+7C>G
NM_001082486.2(ACD):c.646-11A>G
NM_001082486.2(ACD):c.646-6C>T
NM_001082486.2(ACD):c.666C>A (p.Val222=)
NM_001082486.2(ACD):c.723C>T (p.Gly241=) rs757919779
NM_001082486.2(ACD):c.743-6C>T
NM_001082486.2(ACD):c.743-7C>A rs541174802
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
NM_001082486.2(ACD):c.781C>T (p.Leu261=) rs760404492
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
NM_001082486.2(ACD):c.813C>T (p.Ser271=) rs878924464
NM_001082486.2(ACD):c.825C>T (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.830-11C>T
NM_001082486.2(ACD):c.830-12C>A
NM_001082486.2(ACD):c.830-13C>A
NM_001082486.2(ACD):c.830-14C>T rs2142968964
NM_001082486.2(ACD):c.830-5C>T
NM_001082486.2(ACD):c.830-9C>T
NM_001082486.2(ACD):c.861C>G (p.Ser287=) rs751515020
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=) rs1459307216
NM_001082486.2(ACD):c.894T>A (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
NM_001082486.2(ACD):c.939C>G (p.Ser313=) rs1368630251
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
NM_001082486.2(ACD):c.99+19C>T
NM_001082486.2(ACD):c.9T>G (p.Gly3=) rs2142976114
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) rs1669276096
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) rs2101075850
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) rs1669111834
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) rs2101074559
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) rs574323645
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) rs532282272
NM_022914.2(ACD):c.147C>T (p.Gly49=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.