ClinVar Miner

List of variants reported as uncertain significance for Hoyeraal-Hreidarsson syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 405
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00031
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) rs143568469 0.00031
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) rs28381069 0.00022
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) rs140411676 0.00020
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00019
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00018
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00017
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser) rs150078051 0.00014
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00010
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 0.00010
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00009
NM_001082486.2(ACD):c.-24C>T rs770445581 0.00008
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 0.00006
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00006
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) rs201436658 0.00006
NM_001082486.2(ACD):c.100-7C>G rs774058030 0.00005
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930 0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His) rs374742891 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr) rs373593390 0.00004
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu) rs778255016 0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys) rs781239912 0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683 0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His) rs147306863 0.00004
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382 0.00004
NM_022914.2(ACD):c.116G>A (p.Arg39His) rs199612237 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228 0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His) rs200526158 0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) rs781117606 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) rs367553852 0.00003
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) rs375759945 0.00003
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) rs770223898 0.00003
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) rs757797519 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 0.00003
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg) rs752006255 0.00002
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His) rs201907421 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg) rs773274371 0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.545dup (p.Ala184fs) rs1567641214 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val) rs780951085 0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu) rs1006777863 0.00002
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 0.00002
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) rs777529403 0.00002
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 0.00002
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) rs745340882 0.00002
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) rs764770290 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) rs755456896 0.00002
NC_000016.10:g.67660316G>T rs774922687 0.00001
NM_001082486.1(ACD):c.107G>A (p.Gly36Glu) rs527307806 0.00001
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro) rs755584473 0.00001
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu) rs1396620065 0.00001
NM_001082486.1(ACD):c.131G>T (p.Gly44Val) rs756883228 0.00001
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu) rs765105630 0.00001
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg) rs760222002 0.00001
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr) rs781229512 0.00001
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala) rs949049586 0.00001
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser) rs776842448 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala) rs745338439 0.00001
NM_001082486.2(ACD):c.1046del (p.Ser349fs) rs1291433639 0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser) rs757414908 0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) rs996525402 0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu) rs772867895 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter) rs761750721 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg) rs149418249 0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) rs775323156 0.00001
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00001
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.494-3C>G rs1173572864 0.00001
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) rs1435126124 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu) rs1445067662 0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter) rs1339068886 0.00001
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln) rs146270351 0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495 0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr) rs748280747 0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr) rs752793753 0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu) rs139256582 0.00001
NM_001082486.2(ACD):c.742+4A>G rs1380521995 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492 0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg) rs754815475 0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) rs200298308 0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn) rs760978454 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.99+3G>A rs1189416936 0.00001
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384 0.00001
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) rs758926583 0.00001
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) rs774397708 0.00001
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) rs781509316 0.00001
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) rs748342283 0.00001
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) rs758475213 0.00001
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) rs375674908 0.00001
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) rs1401066315 0.00001
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) rs745991382 0.00001
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) rs1478635543 0.00001
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) rs921843370 0.00001
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) rs1216262296 0.00001
NC_000016.10:g.67660263_67660288del
NC_000016.10:g.67660263_67660288dup rs1339425052
NC_000016.10:g.67660277C>G rs776666988
NC_000016.10:g.67660292_67660309del rs1185708088
NC_000016.10:g.67660300del rs2142976499
NC_000016.10:g.67660322_67660356del rs2142976594
NC_000016.10:g.67660324AGG[2] rs1198905942
NC_000016.10:g.67660332_67660346dup rs2142976632
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660478T>C rs1308323945
NC_000016.9:g.(?_65821800)_(72146396_?)del
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr) rs772377460
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg) rs1452825225
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys) rs748543340
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln) rs767099534
NM_001082486.1(ACD):c.133G>A (p.Val45Ile)
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp) rs773291286
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser) rs2142976460
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr) rs763682845
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
NM_001082486.1(ACD):c.37G>A (p.Val13Ile) rs781424953
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser) rs1237579301
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
NM_001082486.1(ACD):c.88C>T (p.His30Tyr) rs376813282
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg) rs761628896
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys) rs761628896
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp) rs774085628
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
NM_001082486.2(ACD):c.-14G>T
NM_001082486.2(ACD):c.-23A>T rs746445437
NM_001082486.2(ACD):c.-26T>G
NM_001082486.2(ACD):c.-29C>A
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T
NM_001082486.2(ACD):c.-30C>T
NM_001082486.2(ACD):c.-36C>A rs762184098
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T
NM_001082486.2(ACD):c.-38A>T
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-8C>T rs766360608
NM_001082486.2(ACD):c.-9G>A
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.100-1G>A
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter) rs1316577809
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser) rs143990276
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val) rs2142967624
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter) rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
NM_001082486.2(ACD):c.1206+4A>G rs2142967211
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val) rs2052901178
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn) rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
NM_001082486.2(ACD):c.1297A>C (p.Arg433=) rs1407657316
NM_001082486.2(ACD):c.1298+1G>C rs2052898891
NM_001082486.2(ACD):c.1299-19A>G
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu) rs2142965523
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
NM_001082486.2(ACD):c.242+5G>A
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter) rs2142974596
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp) rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
NM_001082486.2(ACD):c.336+12G>A
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser) rs377701284
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln) rs141113896
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
NM_001082486.2(ACD):c.357G>C (p.Gln119His) rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter) rs1244950221
NM_001082486.2(ACD):c.413+1G>C
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter) rs2142973399
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs) rs2142972519
NM_001082486.2(ACD):c.493+6G>A rs2052945054
NM_001082486.2(ACD):c.494-11C>G
NM_001082486.2(ACD):c.494-5C>G
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro) rs2142971578
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu) rs145007645
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
NM_001082486.2(ACD):c.536del (p.Gln179fs) rs2142971508
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg) rs2142971458
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
NM_001082486.2(ACD):c.641C>T (p.Ala214Val) rs1306270247
NM_001082486.2(ACD):c.645+10G>C
NM_001082486.2(ACD):c.645+2T>C
NM_001082486.2(ACD):c.646-20A>G
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup) rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
NM_001082486.2(ACD):c.702G>C (p.Gln234His) rs1202466632
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe) rs757807430
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr) rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly) rs778481591
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly) rs2052924182
NM_001082486.2(ACD):c.830-1G>A rs1597769397
NM_001082486.2(ACD):c.830-2A>T rs2142968890
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn) rs2052917223
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
NM_001082486.2(ACD):c.90G>C (p.Gln30His) rs1242526760
NM_001082486.2(ACD):c.911C>T (p.Ala304Val) rs2142968526
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
NM_001082486.2(ACD):c.950_951del (p.Pro317fs) rs2142968355
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383
NM_001082486.2(ACD):c.965C>T (p.Ala322Val) rs2142968307
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp) rs973439601
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) rs757534089
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) rs1038661281
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) rs1668897682
NM_022836.4(DCLRE1B):c.190-3C>G rs1242019671
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) rs776471212
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) rs761321321
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) rs2101068175
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) rs1339289910
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) rs1333588223
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) rs369389853
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) rs138603501
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) rs946912356
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) rs772803140
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) rs754841219
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
NM_022914.2(ACD):c.11G>A (p.Arg4His)
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
NM_022914.2(ACD):c.209C>T (p.Ala70Val) rs758189246
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
NM_022914.2(ACD):c.98C>A (p.Pro33His)

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