ClinVar Miner

List of variants studied for combined pituitary hormone deficiencies, genetic form by Illumina Laboratory Services, Illumina

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 361
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.109+3G>A rs4072924 0.54780
NM_005149.3(TBX19):c.*21T>A rs3885717 0.43776
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) rs7536561 0.40777
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_000061.3(BTK):c.*192G>A rs1057403 0.32006
NM_006261.5(PROP1):c.-210A>C rs13187293 0.30465
NM_005149.3(TBX19):c.*251T>C rs1000533 0.26364
NM_006261.5(PROP1):c.*354G>A rs4604209 0.24860
NM_178138.6(LHX3):c.79+1975G>A rs2274116 0.23265
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_005149.3(TBX19):c.603+11G>T rs12096093 0.14406
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) rs4988496 0.12048
NM_000823.4(GHRHR):c.598-10T>C rs35609199 0.10863
NM_033343.4(LHX4):c.778+14G>T rs3806302 0.09243
NM_006261.5(PROP1):c.*123T>C rs2233788 0.08086
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) rs4988498 0.07235
NM_000823.4(GHRHR):c.-45C>T rs2302021 0.06644
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_000823.4(GHRHR):c.*221T>C rs28371563 0.05985
NM_033343.4(LHX4):c.452-5T>C rs2764449 0.05703
NM_000823.4(GHRHR):c.366+13T>G rs4988499 0.04905
NM_000823.4(GHRHR):c.564C>T (p.His188=) rs740336 0.04789
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_000823.4(GHRHR):c.*147A>C rs2586 0.04030
NM_005149.3(TBX19):c.*479G>C rs1003315 0.03197
NM_000823.4(GHRHR):c.*236C>A rs28371564 0.02852
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) rs2228078 0.02812
NM_000061.3(BTK):c.*334T>G rs183674618 0.02721
NM_033343.4(LHX4):c.-120C>T rs355625 0.02332
NM_005149.3(TBX19):c.*26C>G rs143627386 0.02303
NM_005149.3(TBX19):c.*1155C>G rs77202012 0.02199
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_006261.5(PROP1):c.*419C>T rs116225539 0.02154
NM_005149.3(TBX19):c.*469G>A rs16860362 0.01991
NM_000061.3(BTK):c.954T>C (p.Ser318=) rs5991926 0.01964
NM_005149.3(TBX19):c.917-14G>A rs71632355 0.01897
NM_005149.3(TBX19):c.*186G>A rs10918869 0.01378
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_033343.4(LHX4):c.*97T>G rs145063714 0.01162
NM_178138.6(LHX3):c.108G>A (p.Gln36=) rs33998096 0.01071
NM_178138.6(LHX3):c.*780C>T rs4842130 0.01058
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_005149.3(TBX19):c.105C>T (p.Asp35=) rs34284181 0.00937
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_006261.5(PROP1):c.*52G>A rs2233787 0.00869
NM_033343.4(LHX4):c.*286G>C rs80203153 0.00865
NM_178138.6(LHX3):c.*747C>G rs146752425 0.00714
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_033343.4(LHX4):c.*130C>T rs59623342 0.00680
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_033343.4(LHX4):c.*445G>T rs57069480 0.00607
NM_005149.3(TBX19):c.1122C>T (p.His374=) rs34885709 0.00575
NM_005149.3(TBX19):c.*544G>A rs144304383 0.00566
NM_006261.5(PROP1):c.-302G>A rs150629697 0.00555
NM_005149.3(TBX19):c.761T>C (p.Val254Ala) rs77425733 0.00523
NM_178138.6(LHX3):c.*825C>A rs3739470 0.00510
NM_005149.3(TBX19):c.1053-11dup rs138050448 0.00465
NM_033343.4(LHX4):c.63T>C (p.Gly21=) rs75857235 0.00465
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) rs151019928 0.00461
NM_000823.4(GHRHR):c.237G>A (p.Pro79=) rs28371558 0.00351
NM_005149.3(TBX19):c.*267A>G rs146307337 0.00347
NM_000061.3(BTK):c.*221G>T rs1122765 0.00340
NM_005149.3(TBX19):c.*371C>G rs188457637 0.00318
NM_178138.6(LHX3):c.*637T>C rs191713062 0.00280
NM_000823.4(GHRHR):c.751+12G>A rs187794371 0.00262
NM_000823.4(GHRHR):c.*51C>T rs185262577 0.00240
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile) rs28371560 0.00225
NM_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
NM_178138.6(LHX3):c.*185T>A rs144976921 0.00202
NM_005149.3(TBX19):c.-21G>A rs187423054 0.00201
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_178138.6(LHX3):c.*773G>A rs148781569 0.00191
NM_178138.6(LHX3):c.79+1829G>A rs551389075 0.00185
NM_006261.5(PROP1):c.534G>A (p.Gln178=) rs73807328 0.00184
NM_033343.4(LHX4):c.*289G>A rs74970014 0.00180
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) rs146655496 0.00159
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_033343.4(LHX4):c.*119T>C rs180725260 0.00142
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_005149.3(TBX19):c.315C>T (p.Asn105=) rs143801899 0.00111
NM_000823.4(GHRHR):c.1105-14C>G rs13223704 0.00101
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00098
NM_178138.6(LHX3):c.*791G>A rs12237402 0.00091
NM_000306.4(POU1F1):c.*141A>T rs552876873 0.00088
NM_000823.4(GHRHR):c.975-6C>A rs117572522 0.00088
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_178138.6(LHX3):c.*790C>T rs572411652 0.00068
NM_005149.3(TBX19):c.*1234C>T rs149712948 0.00066
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_005149.3(TBX19):c.*781A>G rs575063780 0.00062
NM_003865.2(HESX1):c.-230T>A rs549564119 0.00050
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) rs142361839 0.00048
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_021728.4(OTX2):c.*779G>A rs138197536 0.00041
NM_005149.3(TBX19):c.*1235G>A rs112010969 0.00036
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_006261.5(PROP1):c.*468C>T rs886060473 0.00033
NM_005149.3(TBX19):c.*258A>C rs771131598 0.00031
NM_033343.4(LHX4):c.90C>T (p.Cys30=) rs147491286 0.00030
NM_000061.3(BTK):c.1909-9T>C rs782702231 0.00029
NM_005149.3(TBX19):c.*273A>G rs755252476 0.00029
NM_000061.3(BTK):c.-105G>T rs1034801451 0.00028
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 0.00026
NM_033343.4(LHX4):c.37G>A (p.Val13Ile) rs146664099 0.00026
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) rs139599160 0.00025
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) rs138615339 0.00024
NM_000823.4(GHRHR):c.660G>A (p.Leu220=) rs145466944 0.00024
NM_021728.4(OTX2):c.*667A>C rs184421963 0.00024
NM_178138.6(LHX3):c.441C>T (p.Thr147=) rs200521449 0.00024
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) rs138751215 0.00023
NM_000306.4(POU1F1):c.27T>C (p.Ala9=) rs35560664 0.00022
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_178138.6(LHX3):c.*309C>T rs1040969252 0.00020
NM_000823.4(GHRHR):c.272C>T (p.Ala91Val) rs144372265 0.00019
NM_005149.3(TBX19):c.*1204T>C rs548141259 0.00019
NM_005149.3(TBX19):c.*1251C>T rs377117067 0.00019
NM_005149.3(TBX19):c.603+15G>T rs886045513 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_033343.4(LHX4):c.-121T>G rs547988090 0.00019
NM_178138.6(LHX3):c.*582G>A rs879304888 0.00019
NM_178138.6(LHX3):c.*9C>T rs369623778 0.00018
NM_005149.3(TBX19):c.597T>C (p.Asn199=) rs143377172 0.00017
NM_033343.4(LHX4):c.-134G>C rs565557892 0.00017
NM_005149.3(TBX19):c.*809A>G rs962423588 0.00016
NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg) rs199644548 0.00016
NM_005149.3(TBX19):c.728-7A>G rs752195406 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_033343.4(LHX4):c.248+13G>A rs375232367 0.00016
NM_033343.4(LHX4):c.849A>C (p.Gly283=) rs373879455 0.00016
NM_178138.6(LHX3):c.79+1935C>G rs769912904 0.00016
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) rs142833343 0.00015
NM_021728.4(OTX2):c.*316G>A rs142727455 0.00015
NM_003865.3(HESX1):c.220G>A (p.Val74Met) rs148422263 0.00014
NM_021728.4(OTX2):c.*764G>A rs775857186 0.00014
NM_178138.6(LHX3):c.*437G>A rs1013764402 0.00014
NM_000306.4(POU1F1):c.*245A>G rs771316195 0.00013
NM_006261.5(PROP1):c.234A>G (p.Pro78=) rs533923552 0.00013
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_178138.6(LHX3):c.*456G>A rs150382420 0.00013
NM_003865.3(HESX1):c.-6G>A rs368171529 0.00012
NM_033343.4(LHX4):c.*28C>A rs75471724 0.00012
NM_178138.6(LHX3):c.*638G>T rs374699388 0.00012
NM_178138.6(LHX3):c.860C>T (p.Ser287Leu) rs748322395 0.00012
NM_000061.3(BTK):c.*390G>A rs782012349 0.00011
NM_000823.4(GHRHR):c.6C>T (p.Asp2=) rs148704543 0.00011
NM_005149.3(TBX19):c.*1026T>C rs945775793 0.00011
NM_005149.3(TBX19):c.724C>T (p.His242Tyr) rs202072731 0.00011
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) rs140016178 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_000306.4(POU1F1):c.427C>A (p.Arg143=) rs142046308 0.00010
NM_021728.4(OTX2):c.-119-65G>T rs886050561 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_000061.3(BTK):c.*342T>G rs781937023 0.00009
NM_000306.4(POU1F1):c.90T>A (p.Ser30Arg) rs543096490 0.00009
NM_000823.4(GHRHR):c.*29A>G rs759106817 0.00009
NM_005149.3(TBX19):c.*954C>T rs140853969 0.00009
NM_000306.4(POU1F1):c.439+4T>C rs199746697 0.00008
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) rs377182945 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_178138.6(LHX3):c.*55G>A rs543364659 0.00008
NM_000061.3(BTK):c.1977C>T (p.Ser659=) rs782047787 0.00007
NM_005149.3(TBX19):c.*654T>G rs886045518 0.00007
NM_033343.4(LHX4):c.146A>G (p.His49Arg) rs368995644 0.00007
NM_033343.4(LHX4):c.774C>T (p.Phe258=) rs565803862 0.00007
NM_178138.6(LHX3):c.776-15C>A rs376405589 0.00007
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) rs201893637 0.00006
NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile) rs746565662 0.00006
NM_000823.4(GHRHR):c.93C>T (p.Ile31=) rs143429066 0.00006
NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe) rs200775601 0.00006
NM_005149.3(TBX19):c.603+13G>T rs762160668 0.00006
NM_005149.3(TBX19):c.959C>T (p.Ser320Leu) rs772038103 0.00006
NM_021728.4(OTX2):c.*966A>G rs57390094 0.00006
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_033343.4(LHX4):c.398T>C (p.Met133Thr) rs371899398 0.00006
NM_178138.6(LHX3):c.251+9C>T rs569254423 0.00006
NM_178138.6(LHX3):c.79+1904C>T rs1021046718 0.00006
NM_003865.3(HESX1):c.*48G>A rs372550682 0.00005
NM_005149.3(TBX19):c.*746A>G rs553418600 0.00005
NM_006261.5(PROP1):c.*37C>T rs749918250 0.00005
NM_021728.4(OTX2):c.840T>C (p.Ala280=) rs201396096 0.00005
NM_178138.6(LHX3):c.*161C>A rs886063701 0.00005
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) rs200508601 0.00004
NM_000823.4(GHRHR):c.914G>A (p.Arg305His) rs200472991 0.00004
NM_005149.3(TBX19):c.310G>A (p.Val104Ile) rs762183325 0.00004
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_006261.5(PROP1):c.-160C>T rs1025842722 0.00004
NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) rs764154376 0.00004
NM_021728.4(OTX2):c.406A>G (p.Ser136Gly) rs770291855 0.00004
NM_033343.4(LHX4):c.*154A>G rs747210761 0.00004
NM_033343.4(LHX4):c.223G>A (p.Val75Ile) rs749318884 0.00004
NM_178138.6(LHX3):c.*357G>A rs886063700 0.00004
NM_178138.6(LHX3):c.*517C>T rs369945393 0.00004
NM_178138.6(LHX3):c.*554C>T rs886063697 0.00004
NM_178138.6(LHX3):c.79+1862A>G rs886063705 0.00004
NM_178138.6(LHX3):c.79+1888G>A rs1188545118 0.00004
NM_178138.6(LHX3):c.966C>T (p.Ala322=) rs551180434 0.00004
NM_000306.4(POU1F1):c.456T>C (p.Asn152=) rs886058914 0.00003
NM_000823.4(GHRHR):c.*88T>A rs578006876 0.00003
NM_000823.4(GHRHR):c.151A>G (p.Thr51Ala) rs141571344 0.00003
NM_000823.4(GHRHR):c.760G>A (p.Val254Met) rs375562610 0.00003
NM_000823.4(GHRHR):c.812+12C>T rs151020002 0.00003
NM_005149.3(TBX19):c.*1230C>T rs775873047 0.00003
NM_005149.3(TBX19):c.840G>A (p.Glu280=) rs753572197 0.00003
NM_021728.4(OTX2):c.*219G>A rs886050559 0.00003
NM_021728.4(OTX2):c.*647A>G rs886050557 0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_033343.4(LHX4):c.*91C>T rs555728017 0.00003
NM_033343.4(LHX4):c.-221G>A rs532307461 0.00003
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) rs780869144 0.00003
NM_178138.6(LHX3):c.*32G>A rs771392788 0.00003
NM_178138.6(LHX3):c.*857C>T rs886063696 0.00003
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu) rs374047783 0.00003
NM_178138.6(LHX3):c.79+1814G>T rs569646536 0.00003
NM_178138.6(LHX3):c.804G>C (p.Pro268=) rs771201500 0.00003
NM_005149.3(TBX19):c.*88G>A rs980005154 0.00002
NM_033343.4(LHX4):c.378G>A (p.Thr126=) rs751665904 0.00002
NM_178138.6(LHX3):c.79+1967C>A rs759584117 0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000306.4(POU1F1):c.-48T>C rs771498395 0.00001
NM_000306.4(POU1F1):c.604+9T>C rs374875206 0.00001
NM_000306.4(POU1F1):c.667A>G (p.Ile223Val) rs770960302 0.00001
NM_000515.5(GH1):c.309C>T (p.Arg103=) rs886053236 0.00001
NM_000823.4(GHRHR):c.*198C>A rs886062276 0.00001
NM_000823.4(GHRHR):c.447C>T (p.Thr149=) rs753197652 0.00001
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) rs547906129 0.00001
NM_000823.4(GHRHR):c.882+11G>A rs200997755 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys) rs747106663 0.00001
NM_005149.3(TBX19):c.*1266C>T rs544283210 0.00001
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala) rs144416092 0.00001
NM_005149.3(TBX19):c.39T>G (p.Asp13Glu) rs886045508 0.00001
NM_005149.3(TBX19):c.536G>A (p.Arg179Gln) rs139968594 0.00001
NM_005149.3(TBX19):c.814G>T (p.Ala272Ser) rs752325337 0.00001
NM_006261.5(PROP1):c.109+13C>T rs759210335 0.00001
NM_006261.5(PROP1):c.156G>A (p.Gly52=) rs781247441 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_021728.4(OTX2):c.*1018T>C rs1594950988 0.00001
NM_021728.4(OTX2):c.*147G>T rs1478094910 0.00001
NM_021728.4(OTX2):c.*543A>G rs948990605 0.00001
NM_021728.4(OTX2):c.*648C>A rs886050556 0.00001
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) rs201612374 0.00001
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) rs200187045 0.00001
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) rs747140246 0.00001
NM_178138.6(LHX3):c.*1031A>G rs569655668 0.00001
NM_178138.6(LHX3):c.*140G>A rs1181863841 0.00001
NM_178138.6(LHX3):c.*237G>A rs1252042714 0.00001
NM_178138.6(LHX3):c.*403T>C rs919677270 0.00001
NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala) rs1260618703 0.00001
NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys) rs886063702 0.00001
NM_178138.6(LHX3):c.145C>T (p.Arg49Cys) rs781049722 0.00001
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp) rs758724505 0.00001
NM_000061.3(BTK):c.*334TG[4] rs200445244
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000306.4(POU1F1):c.-105T>C rs886058915
NM_000306.4(POU1F1):c.439+12T>C rs780655005
NM_000306.4(POU1F1):c.486C>T (p.Gly162=) rs1706526416
NM_000515.4(GH1):c.-68A>G rs6171
NM_000515.5(GH1):c.-63A>C rs695
NM_000515.5(GH1):c.-63A>T rs695
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) rs28371562
NM_000823.4(GHRHR):c.1250del (p.Lys417fs) rs771060895
NM_000823.4(GHRHR):c.174C>A (p.Thr58=) rs540740642
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) rs775025721
NM_000823.4(GHRHR):c.279A>G (p.Lys93=) rs1792444704
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) rs147098353
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) rs570281194
NM_000823.4(GHRHR):c.57+1G>T rs2302022
NM_000823.4(GHRHR):c.640A>G (p.Met214Val) rs535947130
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) rs527387367
NM_000823.4(GHRHR):c.974+15T>G rs1792566990
NM_003865.2(HESX1):c.-203_-200delAATT rs886058754
NM_003865.2(HESX1):c.-245delT rs886058755
NM_003865.3(HESX1):c.*192T>A rs886058753
NM_005149.3(TBX19):c.*1109dup rs550552066
NM_005149.3(TBX19):c.*1325T>C rs886045520
NM_005149.3(TBX19):c.*243T>C rs886045515
NM_005149.3(TBX19):c.*30G>A rs778394368
NM_005149.3(TBX19):c.*363AG[1] rs886045516
NM_005149.3(TBX19):c.*587G>C rs1649574851
NM_005149.3(TBX19):c.*618CTC[1] rs780261050
NM_005149.3(TBX19):c.*695G>A rs891536291
NM_005149.3(TBX19):c.*922GAAA[5] rs67726248
NM_005149.3(TBX19):c.194A>G (p.Lys65Arg) rs886045509
NM_005149.3(TBX19):c.524G>T (p.Gly175Val) rs1648991442
NM_005149.3(TBX19):c.603+10_603+11insTT rs373712384
NM_005149.3(TBX19):c.603+10_603+11insTTGT rs72294615
NM_005149.3(TBX19):c.603+10_603+11insTTGTGT rs746785887
NM_005149.3(TBX19):c.603+6_603+7insCTGTGT rs746838916
NM_005149.3(TBX19):c.603+7GT[18] rs57039241
NM_005149.3(TBX19):c.603+7GT[19] rs57039241
NM_005149.3(TBX19):c.603+7GT[20] rs57039241
NM_005149.3(TBX19):c.603+7GT[22] rs57039241
NM_005149.3(TBX19):c.603+7GT[23] rs57039241
NM_005149.3(TBX19):c.603+7GT[24] rs57039241
NM_005149.3(TBX19):c.603+7GT[25] rs57039241
NM_005149.3(TBX19):c.779C>T (p.Ser260Phe) rs1215287541
NM_005149.3(TBX19):c.932G>A (p.Ser311Asn) rs1649461770
NM_006261.5(PROP1):c.*434T>A rs1772656639
NM_006261.5(PROP1):c.-260A>T rs886060476
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) rs1554182481
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.618G>A (p.Leu206=) rs765098843
NM_006261.5(PROP1):c.623dup (p.Cys208fs) rs886060474
NM_021728.4(OTX2):c.*648C>G rs886050556
NM_021728.4(OTX2):c.*933C>T rs886050555
NM_021728.4(OTX2):c.*993G>C rs1891845026
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) rs199799627
NM_021728.4(OTX2):c.444G>A (p.Pro148=) rs147896150
NM_021728.4(OTX2):c.464C>G (p.Ala155Gly) rs200171280
NM_021728.4(OTX2):c.96G>T (p.Pro32=) rs1892046623
NM_033343.4(LHX4):c.*17C>A rs116482990
NM_033343.4(LHX4):c.*17C>T rs116482990
NM_033343.4(LHX4):c.*221G>T rs1648926689
NM_033343.4(LHX4):c.*26C>T rs138054044
NM_033343.4(LHX4):c.*280T>C rs1648929835
NM_033343.4(LHX4):c.*460G>C rs988330056
NM_033343.4(LHX4):c.*8T>C rs1320121590
NM_033343.4(LHX4):c.-172A>G rs376657735
NM_033343.4(LHX4):c.269C>G (p.Thr90Arg) rs773975101
NM_033343.4(LHX4):c.451+15C>T rs886045598
NM_033343.4(LHX4):c.486C>A (p.Thr162=) rs183432227
NM_033343.4(LHX4):c.83C>T (p.Pro28Leu) rs886045597
NM_178138.6(LHX3):c.*1063C>T rs1564280053
NM_178138.6(LHX3):c.*31C>G rs776792156
NM_178138.6(LHX3):c.*409G>T rs886063699
NM_178138.6(LHX3):c.*501A>T rs886063698
NM_178138.6(LHX3):c.*518G>A rs545939943
NM_178138.6(LHX3):c.*570C>A rs1588623321
NM_178138.6(LHX3):c.*692C>T rs1831495899
NM_178138.6(LHX3):c.*715C>A rs1831495471
NM_178138.6(LHX3):c.*719C>T rs1831495385
NM_178138.6(LHX3):c.*956C>T rs886063695
NM_178138.6(LHX3):c.1092C>T (p.Asn364=) rs886063702
NM_178138.6(LHX3):c.597C>T (p.Arg199=) rs369145566
NM_178138.6(LHX3):c.622C>T (p.Arg208Cys) rs1280467564
NM_178138.6(LHX3):c.737A>G (p.Gln246Arg) rs886063704
NM_178138.6(LHX3):c.79+1813G>C rs886063706
NM_178138.6(LHX3):c.79+1927G>A rs1831682631
NM_178138.6(LHX3):c.915G>A (p.Gln305=) rs548140963

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