ClinVar Miner

List of variants reported as uncertain significance for mandibulofacial dysostosis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 549
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HGVS dbSNP gnomAD frequency
NM_001104631.2(PDE4D):c.*4886A>C rs17291089 0.07219
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_203290.4(POLR1C):c.*30T>C rs185499373 0.00407
NM_203290.4(POLR1C):c.-4G>A rs2231756 0.00388
NM_001104631.2(PDE4D):c.*2100C>T rs577109679 0.00280
NM_001104631.2(PDE4D):c.*2653C>T rs13172038 0.00201
NM_000503.6(EYA1):c.*429T>C rs192602787 0.00165
NM_001104631.2(PDE4D):c.*2747G>A rs557226166 0.00156
NM_000503.6(EYA1):c.-173G>T rs886063091 0.00152
NM_001104631.2(PDE4D):c.*535A>G rs781074391 0.00103
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala) rs138256149 0.00093
NM_203290.4(POLR1C):c.-8G>A rs142683244 0.00081
NM_001104631.2(PDE4D):c.*5295G>T rs143961299 0.00061
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_000503.6(EYA1):c.*1672T>A rs777991930 0.00055
NM_000503.6(EYA1):c.*86C>A rs186838732 0.00055
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) rs145813943 0.00055
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_002734.5(PRKAR1A):c.-53C>T rs886053304 0.00044
NM_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_203290.4(POLR1C):c.116C>T (p.Ala39Val) rs148236144 0.00038
NM_001257096.2(PAX1):c.1175C>G (p.Pro392Arg) rs201542749 0.00037
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_001104631.2(PDE4D):c.*2003T>C rs577458431 0.00034
NM_001104631.2(PDE4D):c.*2004C>A rs760686759 0.00034
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_000503.6(EYA1):c.*848G>A rs775498240 0.00023
NM_001104631.2(PDE4D):c.*414T>C rs1030455444 0.00023
NM_000503.6(EYA1):c.*1543T>G rs867228117 0.00022
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_203290.4(POLR1C):c.490G>A (p.Val164Met) rs200525225 0.00020
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_001104631.2(PDE4D):c.*3863T>C rs866405146 0.00019
NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser) rs142477153 0.00019
NM_002734.5(PRKAR1A):c.238G>T (p.Asp80Tyr) rs762678902 0.00019
NM_000503.6(EYA1):c.*442G>A rs767388665 0.00018
NM_001371623.1(TCOF1):c.1681C>G (p.Pro561Ala) rs144197515 0.00018
NM_203290.4(POLR1C):c.65G>A (p.Arg22His) rs149529196 0.00018
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser) rs371479150 0.00018
NM_000503.6(EYA1):c.*1275G>A rs192113669 0.00017
NM_001104631.2(PDE4D):c.*1268T>C rs886060709 0.00016
NM_001371623.1(TCOF1):c.3349G>A (p.Val1117Ile) rs757151167 0.00016
NM_203290.4(POLR1C):c.*105G>C rs552748715 0.00016
NM_001104631.2(PDE4D):c.*310C>A rs558677290 0.00015
NM_001371623.1(TCOF1):c.911C>T (p.Ser304Leu) rs144193760 0.00015
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_001104631.2(PDE4D):c.*58G>A rs963578789 0.00014
NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln) rs371609378 0.00014
NM_001371623.1(TCOF1):c.230G>A (p.Arg77His) rs145365677 0.00014
NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu) rs376431510 0.00014
NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu) rs140440910 0.00014
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) rs541861585 0.00014
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_001104631.2(PDE4D):c.*1924T>C rs749539498 0.00013
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) rs144195949 0.00013
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) rs148979835 0.00013
NM_001104631.2(PDE4D):c.*2604A>C rs542930751 0.00012
NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys) rs200561413 0.00012
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001104631.2(PDE4D):c.*1034C>T rs886060710 0.00011
NM_001104631.2(PDE4D):c.*2166del rs747331829 0.00011
NM_001104631.2(PDE4D):c.*3492T>G rs949531257 0.00011
NM_001104631.2(PDE4D):c.*5190A>G rs886060701 0.00011
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser) rs757175453 0.00011
NM_000503.6(EYA1):c.*1284C>A rs867048052 0.00010
NM_001104631.2(PDE4D):c.*1295G>A rs556877242 0.00010
NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe) rs112227999 0.00010
NM_002734.5(PRKAR1A):c.914G>A (p.Arg305His) rs768253469 0.00010
NM_001104631.2(PDE4D):c.*1278C>T rs775984561 0.00009
NM_001104631.2(PDE4D):c.*1572A>G rs961856114 0.00009
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257 0.00009
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00009
NM_203290.4(POLR1C):c.585T>C (p.Asp195=) rs766760388 0.00008
NM_001104631.2(PDE4D):c.*4703A>G rs186917544 0.00007
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) rs187997427 0.00007
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) rs776376952 0.00007
NM_000503.6(EYA1):c.*1391G>A rs543035675 0.00006
NM_001257096.2(PAX1):c.*204G>A rs748872583 0.00006
NM_001371623.1(TCOF1):c.766G>A (p.Ala256Thr) rs753898877 0.00006
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109 0.00006
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_001104631.2(PDE4D):c.*2383G>A rs185766952 0.00005
NM_001104631.2(PDE4D):c.*3875G>A rs886060704 0.00005
NM_001104631.2(PDE4D):c.*3892G>A rs1046069326 0.00005
NM_001104631.2(PDE4D):c.*5283A>G rs866638632 0.00005
NM_001257096.2(PAX1):c.95C>T (p.Ala32Val) rs867196272 0.00005
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu) rs779174758 0.00005
NM_000503.6(EYA1):c.*1229G>A rs769460553 0.00004
NM_000503.6(EYA1):c.*1561A>G rs1042576113 0.00004
NM_000503.6(EYA1):c.*545C>T rs886063086 0.00004
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00004
NM_000503.6(EYA1):c.419-10A>G rs371502049 0.00004
NM_001104631.2(PDE4D):c.*2369G>A rs796829320 0.00004
NM_001104631.2(PDE4D):c.*2999T>C rs200919800 0.00004
NM_001104631.2(PDE4D):c.*4513C>T rs886060703 0.00004
NM_001104631.2(PDE4D):c.*5000A>G rs886060702 0.00004
NM_001104631.2(PDE4D):c.*649T>G rs886060713 0.00004
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990 0.00004
NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp) rs367964727 0.00004
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00004
NM_001371623.1(TCOF1):c.737G>A (p.Gly246Glu) rs752816706 0.00004
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_203290.4(POLR1C):c.*166C>T rs928739057 0.00004
NM_000503.6(EYA1):c.-188C>T rs1045608759 0.00003
NM_000503.6(EYA1):c.-49A>G rs773963094 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_001104631.2(PDE4D):c.*1649C>T rs530824932 0.00003
NM_001104631.2(PDE4D):c.*3418T>C rs1466070150 0.00003
NM_001104631.2(PDE4D):c.*421A>G rs886060715 0.00003
NM_001104631.2(PDE4D):c.1189-4C>G rs748827625 0.00003
NM_001371623.1(TCOF1):c.1629G>C (p.Glu543Asp) rs138254692 0.00003
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_002734.5(PRKAR1A):c.535C>G (p.Gln179Glu) rs141913727 0.00003
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly) rs200115914 0.00003
NM_000503.6(EYA1):c.*1529C>T rs779384590 0.00002
NM_000503.6(EYA1):c.*866C>T rs979538866 0.00002
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) rs754901033 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) rs530921368 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_001104631.2(PDE4D):c.-55C>T rs886060716 0.00002
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121 0.00002
NM_001104631.2(PDE4D):c.235C>T (p.Pro79Ser) rs765507833 0.00002
NM_001371623.1(TCOF1):c.1379G>T (p.Gly460Val) rs369804013 0.00002
NM_001371623.1(TCOF1):c.1418A>T (p.Glu473Val) rs769387785 0.00002
NM_001371623.1(TCOF1):c.1651G>A (p.Glu551Lys) rs768127692 0.00002
NM_001371623.1(TCOF1):c.1973C>G (p.Pro658Arg) rs200287975 0.00002
NM_001371623.1(TCOF1):c.2093A>T (p.Glu698Val) rs760265000 0.00002
NM_001371623.1(TCOF1):c.2905G>A (p.Ala969Thr) rs187522917 0.00002
NM_001371623.1(TCOF1):c.457T>C (p.Ser153Pro) rs1161730410 0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_002734.5(PRKAR1A):c.478G>A (p.Ala160Thr) rs765675434 0.00002
NM_002734.5(PRKAR1A):c.73C>T (p.His25Tyr) rs140795787 0.00002
NM_000503.6(EYA1):c.*1297A>G rs1806462036 0.00001
NM_000503.6(EYA1):c.*1598A>C rs886063084 0.00001
NM_000503.6(EYA1):c.*70G>A rs938004211 0.00001
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.-429G>A rs886063094 0.00001
NM_000503.6(EYA1):c.-454G>A rs569684779 0.00001
NM_000503.6(EYA1):c.1509T>C (p.Thr503=) rs371495884 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 0.00001
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) rs886063089 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 0.00001
NM_000503.6(EYA1):c.378G>A (p.Thr126=) rs766288763 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) rs794727845 0.00001
NM_000503.6(EYA1):c.556+5G>C rs886063088 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_001104631.2(PDE4D):c.*131T>C rs953481477 0.00001
NM_001104631.2(PDE4D):c.*1379A>G rs886060708 0.00001
NM_001104631.2(PDE4D):c.*4981C>G rs1024653706 0.00001
NM_001104631.2(PDE4D):c.*780G>C rs886060712 0.00001
NM_001104631.2(PDE4D):c.1188+15A>G rs1747991195 0.00001
NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met) rs1379060456 0.00001
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288 0.00001
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe) rs761294824 0.00001
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724 0.00001
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=) rs957259316 0.00001
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly) rs1290453118 0.00001
NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe) rs779815130 0.00001
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr) rs780848487 0.00001
NM_001257096.2(PAX1):c.811C>G (p.Pro271Ala) rs756166944 0.00001
NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu) rs762339373 0.00001
NM_001371623.1(TCOF1):c.2458A>G (p.Lys820Glu) rs773887777 0.00001
NM_001371623.1(TCOF1):c.2618A>T (p.Glu873Val) rs1169974134 0.00001
NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met) rs368011460 0.00001
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val) rs754773014 0.00001
NM_001371623.1(TCOF1):c.378+3G>A rs779373224 0.00001
NM_001371623.1(TCOF1):c.3857A>G (p.Gln1286Arg) rs762322529 0.00001
NM_001371623.1(TCOF1):c.3886A>G (p.Ile1296Val) rs1297478685 0.00001
NM_001371623.1(TCOF1):c.449A>G (p.Asn150Ser) rs141805606 0.00001
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.101C>G (p.Ser34Cys) rs944887425 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_002734.5(PRKAR1A):c.206A>G (p.Gln69Arg) rs920361727 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) rs1177674637 0.00001
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675 0.00001
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372 0.00001
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys) rs2085877268 0.00001
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434 0.00001
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427 0.00001
NM_203290.4(POLR1C):c.480C>T (p.Asn160=) rs745325916 0.00001
NM_203290.4(POLR1C):c.639C>G (p.His213Gln) rs1251342237 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) rs886061428 0.00001
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159 0.00001
NC_000005.10:g.150374956_150374973del
NM_000503.5(EYA1):c.-508A>G rs886063095
NM_000503.5(EYA1):c.-564_-563delAG rs886063096
NM_000503.5(EYA1):c.-588_-587delAA rs35320129
NM_000503.5(EYA1):c.-588_-587dup rs35320129
NM_000503.5(EYA1):c.-589C>A rs886063099
NM_000503.5(EYA1):c.-590C>A rs886063100
NM_000503.6(EYA1):c.*1126T>C rs1806487217
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*451C>T rs1806581730
NM_000503.6(EYA1):c.*755A>T rs1806536881
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*901dup rs570995924
NM_000503.6(EYA1):c.-155G>A rs886063090
NM_000503.6(EYA1):c.-192G>A rs886063092
NM_000503.6(EYA1):c.-242T>G rs886063093
NM_000503.6(EYA1):c.-263C>T rs146081509
NM_000503.6(EYA1):c.-326G>T rs551597748
NM_000503.6(EYA1):c.-340G>C rs55997623
NM_000503.6(EYA1):c.-75G>C rs558296770
NM_000503.6(EYA1):c.1041A>T (p.Arg347Ser)
NM_000503.6(EYA1):c.1043A>T (p.Tyr348Phe)
NM_000503.6(EYA1):c.1178A>C (p.Asp393Ala)
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly) rs1809290834
NM_000503.6(EYA1):c.1199+19G>A
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1279G>A (p.Gly427Ser)
NM_000503.6(EYA1):c.1288T>C (p.Trp430Arg)
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1360+2C>T rs727503045
NM_000503.6(EYA1):c.1625T>A (p.Ile542Asn)
NM_000503.6(EYA1):c.1645G>A (p.Val549Met)
NM_000503.6(EYA1):c.1684_1686dup (p.Gln562_Gly563insGln)
NM_000503.6(EYA1):c.1698+14G>A rs373281401
NM_000503.6(EYA1):c.1698G>T (p.Lys566Asn)
NM_000503.6(EYA1):c.1699-2_1701del
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly) rs775343638
NM_000503.6(EYA1):c.172G>A (p.Asp58Asn)
NM_000503.6(EYA1):c.1A>G (p.Met1Val)
NM_000503.6(EYA1):c.203-15G>T rs772006212
NM_000503.6(EYA1):c.203C>G (p.Ala68Gly) rs1822657436
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.23G>A (p.Ser8Asn)
NM_000503.6(EYA1):c.273-3T>C rs2129031680
NM_000503.6(EYA1):c.284C>T (p.Pro95Leu)
NM_000503.6(EYA1):c.302C>T (p.Pro101Leu)
NM_000503.6(EYA1):c.37C>G (p.Leu13Val)
NM_000503.6(EYA1):c.416A>G (p.Tyr139Cys)
NM_000503.6(EYA1):c.418+3G>A
NM_000503.6(EYA1):c.494G>A (p.Ser165Asn)
NM_000503.6(EYA1):c.524C>A (p.Pro175His)
NM_000503.6(EYA1):c.533C>T (p.Ala178Val)
NM_000503.6(EYA1):c.557-13C>T
NM_000503.6(EYA1):c.56C>A (p.Ser19Tyr)
NM_000503.6(EYA1):c.589A>G (p.Thr197Ala)
NM_000503.6(EYA1):c.620G>T (p.Gly207Val)
NM_000503.6(EYA1):c.626A>G (p.Asn209Ser)
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)
NM_000503.6(EYA1):c.679G>C (p.Ala227Pro)
NM_000503.6(EYA1):c.746C>T (p.Thr249Ile)
NM_000503.6(EYA1):c.771G>A (p.Gln257=)
NM_000503.6(EYA1):c.809T>C (p.Val270Ala)
NM_000503.6(EYA1):c.815A>G (p.Asp272Gly)
NM_000503.6(EYA1):c.878A>T (p.Asp293Val)
NM_000503.6(EYA1):c.881G>A (p.Arg294Gln)
NM_000503.6(EYA1):c.916C>T (p.Arg306Trp)
NM_000503.6(EYA1):c.943C>T (p.Pro315Ser)
NM_000503.6(EYA1):c.967-16G>A
NM_000503.6(EYA1):c.970G>C (p.Val324Leu)
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)
NM_000503.6(EYA1):c.9G>A (p.Met3Ile) rs1826704843
NM_000503.6(EYA1):c.9G>T (p.Met3Ile)
NM_001104631.2(PDE4D):c.*1020_*1022dup rs886060711
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1729G>C rs751797196
NM_001104631.2(PDE4D):c.*1778T>C rs1580002684
NM_001104631.2(PDE4D):c.*2028TAGA[3] rs780381459
NM_001104631.2(PDE4D):c.*2185T>G rs1742786887
NM_001104631.2(PDE4D):c.*2198C>T rs1742783371
NM_001104631.2(PDE4D):c.*2225C>T rs1742779838
NM_001104631.2(PDE4D):c.*2841A>C rs1038876803
NM_001104631.2(PDE4D):c.*3028A>G rs1742609985
NM_001104631.2(PDE4D):c.*3165_*3166del rs760712576
NM_001104631.2(PDE4D):c.*3210A>G rs1742583103
NM_001104631.2(PDE4D):c.*3325T>C rs1742565588
NM_001104631.2(PDE4D):c.*33dup rs10718401
NM_001104631.2(PDE4D):c.*348_*351del rs35684984
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3754_*3755dup rs34128632
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*4274ATTTT[4] rs766825126
NM_001104631.2(PDE4D):c.*4524C>T rs1742364726
NM_001104631.2(PDE4D):c.*4529C>T rs1742363826
NM_001104631.2(PDE4D):c.*4727C>G rs1742320588
NM_001104631.2(PDE4D):c.*5201G>A rs1742226834
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.*582dup rs886060714
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
NM_001104631.2(PDE4D):c.1189-9dup rs368587062
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro) rs1747740719
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val) rs1747451452
NM_001104631.2(PDE4D):c.1707+12A>C rs1744027001
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln) rs1743815247
NM_001104631.2(PDE4D):c.1828C>A (p.Gln610Lys)
NM_001104631.2(PDE4D):c.2098A>G (p.Thr700Ala)
NM_001104631.2(PDE4D):c.2243C>T (p.Thr748Met)
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp) rs1743287865
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu) rs1186516969
NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)
NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)
NM_001104631.2(PDE4D):c.863T>C (p.Leu288Pro)
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe) rs2153344901
NM_001104631.2(PDE4D):c.959C>G (p.Ser320Cys)
NM_001104631.2(PDE4D):c.983A>C (p.Gln328Pro)
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
NM_001165899.2(PDE4D):c.91C>G (p.Arg31Gly) rs1266456259
NM_001257096.2(PAX1):c.1117T>G (p.Ser373Ala)
NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu) rs767129610
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
NM_001257096.2(PAX1):c.197dup (p.Ala67fs)
NM_001257096.2(PAX1):c.395G>A (p.Arg132Gln)
NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg)
NM_001257096.2(PAX1):c.986C>G (p.Thr329Arg) rs764254894
NM_001276290.1(PRKAR1A):c.1012T>C (p.Ter338Gln)
NM_001371623.1(TCOF1):c.1029_1046del (p.Ser346_Glu351del) rs1763213917
NM_001371623.1(TCOF1):c.1073C>A (p.Ala358Asp)
NM_001371623.1(TCOF1):c.108G>A (p.Gln36=)
NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu) rs1759991869
NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val) rs773162787
NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys)
NM_001371623.1(TCOF1):c.1250C>T (p.Ser417Leu)
NM_001371623.1(TCOF1):c.1300_1389del (p.Pro434_Ala463del)
NM_001371623.1(TCOF1):c.130G>A (p.Val44Ile)
NM_001371623.1(TCOF1):c.1328C>T (p.Ala443Val)
NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg)
NM_001371623.1(TCOF1):c.134C>T (p.Thr45Ile) rs1188694708
NM_001371623.1(TCOF1):c.1363C>T (p.Pro455Ser)
NM_001371623.1(TCOF1):c.1413GGA[2] (p.Glu473del) rs776561920
NM_001371623.1(TCOF1):c.1419G>C (p.Glu473Asp) rs2150707423
NM_001371623.1(TCOF1):c.1466T>A (p.Leu489Gln)
NM_001371623.1(TCOF1):c.1474A>G (p.Met492Val)
NM_001371623.1(TCOF1):c.1516G>C (p.Val506Leu) rs769055076
NM_001371623.1(TCOF1):c.1522C>T (p.Pro508Ser) rs1340850886
NM_001371623.1(TCOF1):c.1538G>T (p.Gly513Val)
NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala)
NM_001371623.1(TCOF1):c.1614G>A (p.Val538=)
NM_001371623.1(TCOF1):c.161A>C (p.Gln54Pro) rs2150399443
NM_001371623.1(TCOF1):c.1623GGA[2] (p.Glu543del) rs1159384975
NM_001371623.1(TCOF1):c.1636G>A (p.Glu546Lys)
NM_001371623.1(TCOF1):c.1741A>C (p.Thr581Pro)
NM_001371623.1(TCOF1):c.1748G>A (p.Ser583Asn)
NM_001371623.1(TCOF1):c.1757A>T (p.Lys586Met)
NM_001371623.1(TCOF1):c.1765C>T (p.Pro589Ser)
NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp)
NM_001371623.1(TCOF1):c.1823C>T (p.Ser608Leu)
NM_001371623.1(TCOF1):c.1844CGGACAGTG[3] (p.Ser620_Glu621insAlaAspSer)
NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val)
NM_001371623.1(TCOF1):c.1975G>C (p.Val659Leu)
NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser) rs2071240
NM_001371623.1(TCOF1):c.1997C>A (p.Pro666His)
NM_001371623.1(TCOF1):c.2014G>T (p.Ala672Ser) rs1487072659
NM_001371623.1(TCOF1):c.2018C>A (p.Thr673Asn)
NM_001371623.1(TCOF1):c.2021C>G (p.Ser674Cys)
NM_001371623.1(TCOF1):c.2134G>A (p.Val712Met)
NM_001371623.1(TCOF1):c.2258A>G (p.Gln753Arg)
NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys)
NM_001371623.1(TCOF1):c.2314G>A (p.Glu772Lys)
NM_001371623.1(TCOF1):c.2348C>A (p.Thr783Asn)
NM_001371623.1(TCOF1):c.2353G>A (p.Val785Ile)
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn) rs1764401679
NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)
NM_001371623.1(TCOF1):c.2416A>C (p.Ile806Leu)
NM_001371623.1(TCOF1):c.2489C>G (p.Pro830Arg)
NM_001371623.1(TCOF1):c.2539G>T (p.Val847Leu)
NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met)
NM_001371623.1(TCOF1):c.2588G>A (p.Gly863Glu)
NM_001371623.1(TCOF1):c.2601_2621del (p.Asp867_Glu873del)
NM_001371623.1(TCOF1):c.2623_2640del (p.Ser875_Glu880del)
NM_001371623.1(TCOF1):c.2630G>A (p.Ser877Asn)
NM_001371623.1(TCOF1):c.2642C>T (p.Ala881Val)
NM_001371623.1(TCOF1):c.2658+13G>T
NM_001371623.1(TCOF1):c.2659G>A (p.Val887Met)
NM_001371623.1(TCOF1):c.2717C>T (p.Ser906Phe)
NM_001371623.1(TCOF1):c.2731G>C (p.Ala911Pro)
NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)
NM_001371623.1(TCOF1):c.2807G>A (p.Ser936Asn)
NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)
NM_001371623.1(TCOF1):c.2813A>T (p.Glu938Val)
NM_001371623.1(TCOF1):c.2897G>A (p.Arg966His)
NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile)
NM_001371623.1(TCOF1):c.3003C>G (p.Ser1001Arg)
NM_001371623.1(TCOF1):c.3043C>A (p.Pro1015Thr)
NM_001371623.1(TCOF1):c.307C>G (p.Pro103Ala)
NM_001371623.1(TCOF1):c.3085C>T (p.Pro1029Ser)
NM_001371623.1(TCOF1):c.3192GAA[1] (p.Lys1065del)
NM_001371623.1(TCOF1):c.3215T>A (p.Leu1072Gln) rs2151031405
NM_001371623.1(TCOF1):c.3253A>G (p.Ser1085Gly) rs2151031928
NM_001371623.1(TCOF1):c.3297+10G>A
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn) rs1193457959
NM_001371623.1(TCOF1):c.3310G>A (p.Val1104Met)
NM_001371623.1(TCOF1):c.3368A>G (p.Asn1123Ser) rs2151037169
NM_001371623.1(TCOF1):c.3397G>A (p.Val1133Ile)
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)
NM_001371623.1(TCOF1):c.347A>T (p.Asp116Val)
NM_001371623.1(TCOF1):c.3505G>T (p.Ala1169Ser)
NM_001371623.1(TCOF1):c.3512C>T (p.Thr1171Met)
NM_001371623.1(TCOF1):c.3518-4C>G rs2151048297
NM_001371623.1(TCOF1):c.3530C>A (p.Pro1177His)
NM_001371623.1(TCOF1):c.3582T>G (p.Asp1194Glu)
NM_001371623.1(TCOF1):c.3587TGG[1] (p.Val1197del) rs748108935
NM_001371623.1(TCOF1):c.3614C>T (p.Ser1205Leu)
NM_001371623.1(TCOF1):c.3617G>A (p.Gly1206Asp)
NM_001371623.1(TCOF1):c.3631G>A (p.Gly1211Arg)
NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro)
NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe) rs1554079581
NM_001371623.1(TCOF1):c.3689C>T (p.Pro1230Leu) rs768747268
NM_001371623.1(TCOF1):c.3743C>G (p.Ala1248Gly)
NM_001371623.1(TCOF1):c.3785-14T>G
NM_001371623.1(TCOF1):c.3872C>T (p.Ala1291Val)
NM_001371623.1(TCOF1):c.3914G>T (p.Trp1305Leu)
NM_001371623.1(TCOF1):c.3943T>A (p.Ser1315Thr)
NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys)
NM_001371623.1(TCOF1):c.3982A>G (p.Arg1328Gly)
NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln)
NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn) rs199890846
NM_001371623.1(TCOF1):c.4030G>A (p.Glu1344Lys)
NM_001371623.1(TCOF1):c.4036C>A (p.Arg1346Ser)
NM_001371623.1(TCOF1):c.4036C>T (p.Arg1346Cys)
NM_001371623.1(TCOF1):c.4040A>G (p.Lys1347Arg)
NM_001371623.1(TCOF1):c.4052C>T (p.Ser1351Leu)
NM_001371623.1(TCOF1):c.4076C>T (p.Thr1359Ile)
NM_001371623.1(TCOF1):c.4120G>T (p.Gly1374Trp)
NM_001371623.1(TCOF1):c.4151C>T (p.Ser1384Phe)
NM_001371623.1(TCOF1):c.4154C>T (p.Thr1385Met)
NM_001371623.1(TCOF1):c.4171G>A (p.Ala1391Thr)
NM_001371623.1(TCOF1):c.4186G>T (p.Ala1396Ser)
NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser)
NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln)
NM_001371623.1(TCOF1):c.4283C>T (p.Thr1428Met)
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
NM_001371623.1(TCOF1):c.4318A>G (p.Lys1440Glu) rs2151107757
NM_001371623.1(TCOF1):c.431C>T (p.Thr144Ile)
NM_001371623.1(TCOF1):c.434G>A (p.Gly145Glu)
NM_001371623.1(TCOF1):c.4361A>C (p.Glu1454Ala) rs1561543582
NM_001371623.1(TCOF1):c.4361A>G (p.Glu1454Gly) rs1561543582
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4378A>G (p.Lys1460Glu)
NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro) rs146405751
NM_001371623.1(TCOF1):c.440C>T (p.Thr147Met)
NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del)
NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr)
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser) rs370631849
NM_001371623.1(TCOF1):c.521AGG[2] (p.Glu176del) rs767850463
NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del) rs1762083909
NM_001371623.1(TCOF1):c.630_631insCTG (p.Thr210_Asp211insLeu) rs1581075276
NM_001371623.1(TCOF1):c.688A>T (p.Thr230Ser)
NM_001371623.1(TCOF1):c.791A>G (p.Lys264Arg)
NM_001371623.1(TCOF1):c.814A>G (p.Ser272Gly) rs577953324
NM_001371623.1(TCOF1):c.827_844dup (p.Glu281_Glu282insGlySerGluSerGluGlu)
NM_001371623.1(TCOF1):c.835A>G (p.Ser279Gly) rs1562326677
NM_001371623.1(TCOF1):c.85G>C (p.Glu29Gln)
NM_001371623.1(TCOF1):c.863G>A (p.Arg288Gln)
NM_001371623.1(TCOF1):c.870+1G>A
NM_001371623.1(TCOF1):c.871-15T>C
NM_001371623.1(TCOF1):c.878C>T (p.Ala293Val)
NM_001371623.1(TCOF1):c.928A>C (p.Thr310Pro)
NM_001371623.1(TCOF1):c.931C>T (p.Pro311Ser)
NM_001371623.1(TCOF1):c.973_999del (p.Ala325_Gly333del) rs1562337018
NM_001371623.1(TCOF1):c.983C>G (p.Ser328Cys) rs1467499141
NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu)
NM_001957.4(EDNRA):c.955T>A (p.Trp319Arg)
NM_002734.4(PRKAR1A):c.*2991G>T rs2086031493
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1118dup rs886053312
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*587del rs398041821
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.1057C>A (p.Pro353Thr) rs2085939977
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_002734.5(PRKAR1A):c.13A>C (p.Ser5Arg) rs1600461789
NM_002734.5(PRKAR1A):c.209A>G (p.Lys70Arg)
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.320A>C (p.Glu107Ala) rs1600479179
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.348+3_348+6del
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.472T>A (p.Phe158Ile)
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) rs2085773408
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.78C>G (p.Asn26Lys)
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002734.5(PRKAR1A):c.824A>G (p.Gln275Arg)
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala) rs1955966967
NM_015972.4(POLR1D):c.388G>T (p.Glu130Ter)
NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)
NM_019014.6(POLR1B):c.1496C>T (p.Pro499Leu)
NM_019014.6(POLR1B):c.2055C>A (p.Asn685Lys)
NM_019014.6(POLR1B):c.56T>C (p.Leu19Ser)
NM_019014.6(POLR1B):c.921C>G (p.Cys307Trp)
NM_203290.4(POLR1C):c.-21A>G rs190872536
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln) rs1793045102
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.70-7G>C rs886061425
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile) rs948560181
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) rs745835548
NM_212472.2(PRKAR1A):c.-200T>A rs534001445
Single allele

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