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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 238

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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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