ClinVar Miner

List of variants reported as uncertain significance for Hoyeraal-Hreidarsson syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 448
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00060
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00032
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 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.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00018
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00015
NC_000016.10:g.67660444C>G rs377118118 0.00014
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_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00013
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00011
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00009
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 0.00009
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00007
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 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.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NC_000016.10:g.67660363C>T rs199612237 0.00004
NC_000016.10:g.67660399C>T rs778255016 0.00004
NC_000016.10:g.67660459C>G rs373593390 0.00004
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys) rs781239912 0.00004
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 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
NC_000016.10:g.67660300A>C rs753367228 0.00003
NC_000016.10:g.67660342del rs753666055 0.00003
NC_000016.10:g.67660378C>A rs747050159 0.00003
NM_001082486.2(ACD):c.-24C>T rs770445581 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.1201G>A (p.Val401Ile) rs771802167 0.00003
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 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.923A>G (p.Asp308Gly) rs1199130382 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 0.00003
NC_000016.10:g.67660379G>C rs1475506303 0.00002
NM_001082486.2(ACD):c.-6G>A rs762014701 0.00002
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys) rs376242489 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.137C>T (p.Ser46Phe) rs1364303645 0.00002
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu) rs762580062 0.00002
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter) rs1244950221 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.706A>T (p.Ile236Phe) rs757807430 0.00002
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly) rs1466387773 0.00002
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr) rs1472839808 0.00002
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser) rs1260047390 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.1058T>C (p.Val353Ala) rs777529403 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.67660262C>T rs558547634 0.00001
NC_000016.10:g.67660264G>T rs765105630 0.00001
NC_000016.10:g.67660297G>A rs1179431836 0.00001
NC_000016.10:g.67660304C>T rs1406176384 0.00001
NC_000016.10:g.67660316G>T rs774922687 0.00001
NC_000016.10:g.67660324del rs760567176 0.00001
NC_000016.10:g.67660325G>T rs1438728678 0.00001
NC_000016.10:g.67660330A>C rs775299013 0.00001
NC_000016.10:g.67660346C>A rs944733130 0.00001
NC_000016.10:g.67660348C>A rs756883228 0.00001
NC_000016.10:g.67660354G>T rs1396620065 0.00001
NC_000016.10:g.67660357T>G rs755584473 0.00001
NC_000016.10:g.67660361C>T rs1399432151 0.00001
NC_000016.10:g.67660370G>T rs748543340 0.00001
NC_000016.10:g.67660372C>T rs527307806 0.00001
NC_000016.10:g.67660382G>A rs776842448 0.00001
NC_000016.10:g.67660384C>A rs774085628 0.00001
NC_000016.10:g.67660388T>C rs949049586 0.00001
NC_000016.10:g.67660391G>A rs376813282 0.00001
NC_000016.10:g.67660393A>C rs755492638 0.00001
NC_000016.10:g.67660402C>G rs781229512 0.00001
NC_000016.10:g.67660412C>G rs760222002 0.00001
NC_000016.10:g.67660414G>A rs369698525 0.00001
NC_000016.10:g.67660436C>T rs752006255 0.00001
NC_000016.10:g.67660461C>G rs1479317574 0.00001
NC_000016.10:g.67660472C>G rs1198686319 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.-38A>T rs1022549385 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.1102C>T (p.Pro368Ser) rs143990276 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.1214C>T (p.Pro405Leu) rs2543597150 0.00001
NM_001082486.2(ACD):c.1225C>T (p.Arg409Cys) rs772336203 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915 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.1306C>T (p.Pro436Ser) rs201926842 0.00001
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn) rs2543595736 0.00001
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala) rs1313859184 0.00001
NM_001082486.2(ACD):c.140A>G (p.His47Arg) rs1235862680 0.00001
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly) rs755166756 0.00001
NM_001082486.2(ACD):c.164G>T (p.Gly55Val) rs1246930718 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.194A>G (p.His65Arg) rs757097343 0.00001
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter) rs2142974596 0.00001
NM_001082486.2(ACD):c.326A>T (p.Glu109Val) rs770621727 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe) rs775602659 0.00001
NM_001082486.2(ACD):c.361G>C (p.Asp121His) rs771131495 0.00001
NM_001082486.2(ACD):c.418C>G (p.Gln140Glu) rs1405050067 0.00001
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr) rs1257437432 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.526C>T (p.Arg176Trp) rs758515562 0.00001
NM_001082486.2(ACD):c.545del (p.Gln182fs) rs756960132 0.00001
NM_001082486.2(ACD):c.556G>A (p.Val186Met) rs780989111 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.587A>T (p.Glu196Val) rs1400523803 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 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.634T>C (p.Cys212Arg) rs1412778636 0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495 0.00001
NM_001082486.2(ACD):c.645+2T>C rs774178147 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.718C>G (p.Leu240Val) rs1306566304 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.751C>G (p.Leu251Val) rs2052926994 0.00001
NM_001082486.2(ACD):c.755C>T (p.Pro252Leu) rs2052926797 0.00001
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser) rs370413440 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro) rs573094162 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.820A>G (p.Ser274Gly) rs2052924182 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.902C>G (p.Ser301Cys) rs532542932 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383 0.00001
NM_001082486.2(ACD):c.965C>T (p.Ala322Val) rs2142968307 0.00001
NM_001082486.2(ACD):c.99+3G>A rs1189416936 0.00001
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 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.253A>G (p.Ile85Val) rs761321321 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360 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 rs1339425052
NC_000016.10:g.67660263_67660288dup rs1339425052
NC_000016.10:g.67660265C>G rs1454372283
NC_000016.10:g.67660270G>A rs758189246
NC_000016.10:g.67660271C>A rs763682845
NC_000016.10:g.67660271C>T rs763682845
NC_000016.10:g.67660277C>G rs776666988
NC_000016.10:g.67660280C>T rs1208257080
NC_000016.10:g.67660291G>C rs2142976456
NC_000016.10:g.67660292G>A rs2142976460
NC_000016.10:g.67660292_67660309del rs1185708088
NC_000016.10:g.67660295G>A rs2543612336
NC_000016.10:g.67660300A>G rs753367228
NC_000016.10:g.67660300del rs2142976499
NC_000016.10:g.67660303T>C rs756596405
NC_000016.10:g.67660322G>A rs773291286
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.67660346C>T rs944733130
NC_000016.10:g.67660351C>T rs767099534
NC_000016.10:g.67660354G>A rs1396620065
NC_000016.10:g.67660355C>T
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660358G>T rs1347436636
NC_000016.10:g.67660360G>T rs374417270
NC_000016.10:g.67660364G>A rs779396245
NC_000016.10:g.67660370G>A rs748543340
NC_000016.10:g.67660373C>T rs1452825225
NC_000016.10:g.67660376C>T rs772377460
NC_000016.10:g.67660378C>G rs747050159
NC_000016.10:g.67660381G>T rs556642707
NC_000016.10:g.67660384C>T rs774085628
NC_000016.10:g.67660385C>A rs761628896
NC_000016.10:g.67660385C>G rs761628896
NC_000016.10:g.67660387G>C rs760441780
NC_000016.10:g.67660393A>G rs755492638
NC_000016.10:g.67660393A>T rs755492638
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660401G>T rs142762905
NC_000016.10:g.67660405G>C rs1237579301
NC_000016.10:g.67660407C>A rs745972649
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660408C>T rs774278103
NC_000016.10:g.67660415C>G rs572519785
NC_000016.10:g.67660417G>A rs753239056
NC_000016.10:g.67660423C>G rs1056634239
NC_000016.10:g.67660423C>T rs1056634239
NC_000016.10:g.67660426G>A rs1265843178
NC_000016.10:g.67660435C>G
NC_000016.10:g.67660442C>T rs781424953
NC_000016.10:g.67660450G>C rs2543613625
NC_000016.10:g.67660465C>T rs1555542868
NC_000016.10:g.67660468C>T rs2142977068
NC_000016.10:g.67660478T>C rs1308323945
NC_000016.9:g.(?_65821800)_(72146396_?)del
NC_000016.9:g.(?_67692438)_(67694381_?)del
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.71_72invGG (p.Trp24Ser)
NM_001082486.2(ACD):c.-14G>T rs778737223
NM_001082486.2(ACD):c.-23A>T rs746445437
NM_001082486.2(ACD):c.-26T>G rs1486097298
NM_001082486.2(ACD):c.-29C>A rs534010648
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T rs534010648
NM_001082486.2(ACD):c.-30C>T rs2052979977
NM_001082486.2(ACD):c.-36C>A rs762184098
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T rs762184098
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-8C>T rs766360608
NM_001082486.2(ACD):c.-9G>A rs377247506
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.100-1G>A rs1307232927
NM_001082486.2(ACD):c.100-6C>A
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile) rs2543599052
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser) rs2543599039
NM_001082486.2(ACD):c.1019C>T (p.Pro340Leu) rs2142968039
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) rs1226080408
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu) rs1170947069
NM_001082486.2(ACD):c.1058A>G (p.His353Arg) rs2052912225
NM_001082486.2(ACD):c.1072C>T (p.His358Tyr)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg) rs146699133
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe) rs1371999681
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs) rs780034644
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn) rs2543598598
NM_001082486.2(ACD):c.1117_1125dup (p.Phe375_Val376insLysGluPhe)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile) rs2543598516
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val) rs2142967624
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs) rs2543610594
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu) rs1420989941
NM_001082486.2(ACD):c.1177del (p.Arg393fs)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter) rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys) rs772771047
NM_001082486.2(ACD):c.1206+1G>C
NM_001082486.2(ACD):c.1206+4A>G rs2142967211
NM_001082486.2(ACD):c.1207-5T>C
NM_001082486.2(ACD):c.1207G>T (p.Glu403Ter)
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1216A>C (p.Lys406Gln)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln) rs1198341322
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp) rs2543597041
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val) rs2052901178
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn) rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg) rs750023370
NM_001082486.2(ACD):c.1259C>T (p.Pro420Leu) rs750023370
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val) rs936069041
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg) rs2543596616
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly) rs752683720
NM_001082486.2(ACD):c.1297A>C (p.Arg433=) rs1407657316
NM_001082486.2(ACD):c.1298+1G>C rs2052898891
NM_001082486.2(ACD):c.1299G>A (p.Arg433=) rs756845439
NM_001082486.2(ACD):c.131del (p.Gly44fs)
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu) rs1388068695
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser) rs2543595622
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr) rs1313859184
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu) rs2142965523
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys) rs1320429671
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser) rs1597773937
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn) rs2543610289
NM_001082486.2(ACD):c.187G>A (p.Gly63Arg) rs769728392
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala) rs2543610267
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.203G>T (p.Arg68Leu) rs2543610163
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn) rs375257354
NM_001082486.2(ACD):c.242+5G>A rs2543609937
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp) rs775787415
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro) rs2543609097
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly) rs2543609021
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg) rs2543609028
NM_001082486.2(ACD):c.305G>C (p.Gly102Ala)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe) rs2543608997
NM_001082486.2(ACD):c.317A>G (p.Gln106Arg)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu) rs770184750
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp) rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr) rs773029984
NM_001082486.2(ACD):c.336+12G>A rs2543608786
NM_001082486.2(ACD):c.336+1G>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.343G>T (p.Glu115Ter)
NM_001082486.2(ACD):c.352C>G (p.Leu118Val)
NM_001082486.2(ACD):c.357G>C (p.Gln119His) rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs) rs1345285917
NM_001082486.2(ACD):c.40C>A (p.Arg14=) rs1235168823
NM_001082486.2(ACD):c.413+1G>C rs767285943
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter) rs2142973399
NM_001082486.2(ACD):c.430G>A (p.Val144Ile) rs1380577187
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro) rs2543606798
NM_001082486.2(ACD):c.448G>T (p.Asp150Tyr) rs915716446
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe) rs1310303692
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter) rs2543606725
NM_001082486.2(ACD):c.481T>A (p.Ser161Thr) rs1338842935
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 rs368882788
NM_001082486.2(ACD):c.494-5C>G rs2543604169
NM_001082486.2(ACD):c.496_500del (p.Leu166fs) rs2543604091
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro) rs2142971578
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) rs754351563
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) rs2543603809
NM_001082486.2(ACD):c.563T>C (p.Leu188Pro)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln) rs1312368213
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp) rs780160617
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala) rs758700674
NM_001082486.2(ACD):c.626C>T (p.Ala209Val) rs1308347829
NM_001082486.2(ACD):c.641C>T (p.Ala214Val) rs1306270247
NM_001082486.2(ACD):c.645+10G>C rs971678149
NM_001082486.2(ACD):c.645+4A>C
NM_001082486.2(ACD):c.646-20A>G rs2543602713
NM_001082486.2(ACD):c.653C>T (p.Ala218Val) rs1191670402
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup) rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile) rs548837823
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg) rs759305698
NM_001082486.2(ACD):c.676A>G (p.Met226Val) rs1297777290
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe) rs752793753
NM_001082486.2(ACD):c.702G>C (p.Gln234His) rs1202466632
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser) rs752293373
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg) rs1400041152
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.742+4del
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp) rs1164847207
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly) rs778481591
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg) rs754631809
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile) rs1293649438
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del) rs762307705
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001082486.2(ACD):c.821G>T (p.Ser274Ile)
NM_001082486.2(ACD):c.830-11CTC[2]
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) rs2052918579
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu) rs2052917888
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser) rs375173439
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn) rs2052917223
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr) rs532542932
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) rs2543599406
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr) rs2543599320
NM_001082486.2(ACD):c.950_951del (p.Pro317fs) rs2142968355
NM_001082486.2(ACD):c.953C>G (p.Ala318Gly)
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp) rs1218445903
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.99+5G>A
NM_001082486.2(ACD):c.995_1021del (p.His332_Pro340del)
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.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.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.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu) rs1198905942
NM_022914.2(ACD):c.17dup (p.Ser7Glufs) rs878879924
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs) rs1567643009
NM_022914.2(ACD):c.96dup (p.Arg34Profs) rs1256494960

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