ClinVar Miner

List of variants reported as likely benign for Hoyeraal-Hreidarsson syndrome

Included ClinVar conditions (5):
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
NC_000016.10:g.67660401G>A rs142762905 0.00004
NC_000016.10:g.67660470G>C 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
NC_000016.10:g.67660452G>A 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
NC_000016.10:g.67660377T>G rs773306733 0.00002
NC_000016.10:g.67660395A>G 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
NC_000016.10:g.67660305C>T 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.67660278C>G
NC_000016.10:g.67660284T>C rs2142976427
NC_000016.10:g.67660296A>G rs2052981802
NC_000016.10:g.67660322G>T rs773291286
NC_000016.10:g.67660326G>A
NC_000016.10:g.67660329G>T
NC_000016.10:g.67660332G>A
NC_000016.10:g.67660341A>G
NC_000016.10:g.67660344T>A rs1567643005
NC_000016.10:g.67660347A>G
NC_000016.10:g.67660356C>T rs974748354
NC_000016.10:g.67660377T>C
NC_000016.10:g.67660383G>A
NC_000016.10:g.67660383G>C rs574891736
NC_000016.10:g.67660383G>T rs574891736
NC_000016.10:g.67660389G>A rs2052986707
NC_000016.10:g.67660392C>T rs1295714510
NC_000016.10:g.67660410C>G
NC_000016.10:g.67660410C>T rs554258142
NC_000016.10:g.67660413C>G rs766076324
NC_000016.10:g.67660419T>G
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

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