ClinVar Miner

List of variants reported as uncertain significance for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_178138.6(LHX3):c.*780C>T rs4842130 0.01058
NM_006261.5(PROP1):c.*52G>A rs2233787 0.00869
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_006261.5(PROP1):c.-302G>A rs150629697 0.00555
NM_005149.3(TBX19):c.1053-11dup rs138050448 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.*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_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
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_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_033343.4(LHX4):c.*289G>A rs74970014 0.00180
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
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_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_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.705C>G (p.Arg235=) rs138595537 0.00073
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_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_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_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_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00027
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 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_006261.5(PROP1):c.110-8G>A rs377698903 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_000823.4(GHRHR):c.53C>T (p.Pro18Leu) rs202243828 0.00023
NM_000306.4(POU1F1):c.27T>C (p.Ala9=) rs35560664 0.00022
NM_003865.3(HESX1):c.460-3T>C rs112703580 0.00021
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_178138.6(LHX3):c.*309C>T rs1040969252 0.00020
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_178138.6(LHX3):c.79+1935C>G rs769912904 0.00016
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) rs142833343 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_006261.5(PROP1):c.303T>C (p.Ser101=) rs114584451 0.00013
NM_178138.6(LHX3):c.*456G>A rs150382420 0.00013
NM_000061.3(BTK):c.390C>T (p.Asn130=) rs150917517 0.00012
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_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 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_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_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009
NM_000823.4(GHRHR):c.*29A>G rs759106817 0.00009
NM_005149.3(TBX19):c.*954C>T rs140853969 0.00009
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) rs372952844 0.00009
NM_178138.6(LHX3):c.739G>A (p.Glu247Lys) rs767763626 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_178138.6(LHX3):c.281A>T (p.Gln94Leu) rs758634719 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_178138.6(LHX3):c.776-15C>A rs376405589 0.00007
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) rs141590686 0.00006
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_178138.6(LHX3):c.251+9C>T rs569254423 0.00006
NM_178138.6(LHX3):c.79+1904C>T rs1021046718 0.00006
NM_178138.6(LHX3):c.919C>A (p.Arg307=) rs145867977 0.00006
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr) rs201187873 0.00006
NM_003865.3(HESX1):c.*48G>A rs372550682 0.00005
NM_005149.3(TBX19):c.*746A>G rs553418600 0.00005
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) rs147003438 0.00005
NM_006261.5(PROP1):c.*37C>T rs749918250 0.00005
NM_006261.5(PROP1):c.624C>T (p.Cys208=) rs761651134 0.00005
NM_178138.6(LHX3):c.*161C>A rs886063701 0.00005
NM_000061.3(BTK):c.894+3A>G rs781949555 0.00004
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_003865.3(HESX1):c.350A>C (p.Gln117Pro) rs765353265 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 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_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 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_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.1155C>T (p.Pro385=) rs377653669 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_000061.3(BTK):c.1358C>T (p.Ser453Phe) rs782457670 0.00003
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.760G>A (p.Val254Met) rs375562610 0.00003
NM_000823.4(GHRHR):c.812+12C>T rs151020002 0.00003
NM_003865.3(HESX1):c.479G>A (p.Arg160His) rs766234350 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.804G>C (p.Pro268=) rs771201500 0.00003
NM_178138.6(LHX3):c.993G>A (p.Gln331=) rs752480970 0.00003
NM_000061.3(BTK):c.482A>C (p.Asn161Thr) rs371085740 0.00002
NM_005149.3(TBX19):c.*88G>A rs980005154 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 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.1328T>C (p.Ile443Thr) rs782133950 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu) rs1057521814 0.00001
NM_000061.3(BTK):c.367C>T (p.Arg123Trp) rs1926975244 0.00001
NM_000061.3(BTK):c.577G>C (p.Glu193Gln) rs1555978783 0.00001
NM_000061.3(BTK):c.580G>A (p.Glu194Lys) rs1555978779 0.00001
NM_000061.3(BTK):c.736G>C (p.Glu246Gln) rs1468544899 0.00001
NM_000061.3(BTK):c.7G>A (p.Ala3Thr) rs368549990 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_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 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.11G>A (p.Ser4Asn) rs1332400265 0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_003865.3(HESX1):c.137C>T (p.Ala46Val) rs765587086 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His) rs121909173 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg) rs375305919 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys) rs747106663 0.00001
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala) rs144416092 0.00001
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) rs753455443 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_005149.3(TBX19):c.916+2T>G rs763382655 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.249G>A (p.Gln83=) rs373160119 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.740A>T (p.Glu247Val) rs766381404 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.80-10G>A rs555766551 0.00001
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp) rs758724505 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NC_000003.11:g.(?_57130421)_(57303715_?)dup
NC_000023.10:g.(?_100604873)_(100630272_?)dup
NC_000023.10:g.(?_100617141)_(100662891_?)dup
NC_000023.10:g.(?_99551275)_(101097764_?)dup
NC_000023.11:g.(?_101353174)_(101358716_?)dup
NM_000061.3(BTK):c.-31+1G>A rs1927600989
NM_000061.3(BTK):c.-31+6T>C
NM_000061.3(BTK):c.-87C>T rs1927601892
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro) rs1603006298
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr) rs1057517709
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys) rs1555978130
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr) rs2147429790
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile) rs1603005179
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
NM_000061.3(BTK):c.1349+2dup rs2147428153
NM_000061.3(BTK):c.1349+6T>G
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe) rs2147427522
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn) rs1926475663
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro) rs1926474231
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
NM_000061.3(BTK):c.1469G>A (p.Arg490His) rs1926473502
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro) rs782338603
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro) rs2147427327
NM_000061.3(BTK):c.1492C>G (p.Leu498Val) rs1555977807
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys) rs1569291237
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu) rs1603003195
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
NM_000061.3(BTK):c.1631+6T>G rs2147425735
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
NM_000061.3(BTK):c.1632-11_1632-6del
NM_000061.3(BTK):c.1632-3C>A rs1926384033
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
NM_000061.3(BTK):c.163T>C (p.Ser55Pro) rs1603019607
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) rs2147424985
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu) rs1926379592
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr) rs2147424863
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys) rs1603002341
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu) rs1926361058
NM_000061.3(BTK):c.1759A>C (p.Met587Leu) rs1603001822
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro) rs1603001783
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr) rs1926358194
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro) rs2147424197
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser) rs868967798
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys) rs1603001680
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu) rs1901797830
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro) rs2147424035
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu) rs1926354581
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
NM_000061.3(BTK):c.1909-1G>A
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
NM_000061.3(BTK):c.216T>G (p.Asn72Lys) rs1555980789
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
NM_000061.3(BTK):c.240+2dup
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
NM_000061.3(BTK):c.282C>G (p.Ile94Met) rs2147444915
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr) rs1926977202
NM_000061.3(BTK):c.337G>A (p.Val113Ile) rs2147443453
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
NM_000061.3(BTK):c.41C>T (p.Ser14Phe) rs1057520682
NM_000061.3(BTK):c.493T>C (p.Cys165Arg) rs1603010344
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
NM_000061.3(BTK):c.520+15C>T rs782697907
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
NM_000061.3(BTK):c.77A>G (p.Lys26Arg) rs2147448262
NM_000061.3(BTK):c.839+4_839+7del
NM_000061.3(BTK):c.839+5G>T
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000061.3(BTK):c.840-3C>G
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) rs1926588297
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+2dup rs2147430924
NM_000061.3(BTK):c.895-12T>C rs1926564625
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
NM_000061.3(BTK):c.934G>C (p.Ala312Pro) rs1926563146
NM_000061.3(BTK):c.941A>G (p.Lys314Arg) rs1386621585
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
NM_000061.3(BTK):c.980C>T (p.Pro327Leu) rs1926556967
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
NM_000061.3(BTK):c.998A>C (p.His333Pro)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000306.4(POU1F1):c.-105T>C rs886058915
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000306.4(POU1F1):c.439+12T>C rs780655005
NM_000306.4(POU1F1):c.486C>T (p.Gly162=) rs1706526416
NM_000329.3(RPE65):c.110G>C (p.Trp37Ser) rs1557603965
NM_000329.3(RPE65):c.203A>C (p.His68Pro) rs1557603862
NM_000329.3(RPE65):c.722A>G (p.His241Arg) rs1557600322
NM_000515.5(GH1):c.11-8C>T
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) rs1907477324
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) rs1907452711
NM_000515.5(GH1):c.452T>C (p.Met151Thr) rs1180054712
NM_000515.5(GH1):c.588G>A (p.Met196Ile) rs1907385621
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
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_003865.3(HESX1):c.131C>T (p.Pro44Leu)
NM_003865.3(HESX1):c.157+5G>A
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu) rs756899311
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn) rs2060466182
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr) rs2060466182
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr) rs141863326
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)
NM_003865.3(HESX1):c.219C>T (p.Ser73=)
NM_003865.3(HESX1):c.224T>G (p.Val75Gly)
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr)
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)
NM_003865.3(HESX1):c.305A>T (p.Glu102Val)
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu)
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly) rs2107564081
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg) rs2107564014
NM_003865.3(HESX1):c.405C>G (p.Ile135Met) rs190201411
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) rs1385826685
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu)
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu)
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)
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.194A>G (p.Lys65Arg) rs886045509
NM_005149.3(TBX19):c.403T>C (p.Trp135Arg) rs1648935336
NM_005149.3(TBX19):c.524G>T (p.Gly175Val) rs1648991442
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) rs1159356681
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_005634.3(SOX3):c.186TCC[1] (p.Pro64del) rs1927349741
NM_006261.5(PROP1):c.*434T>A rs1772656639
NM_006261.5(PROP1):c.-260A>T rs886060476
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) rs1755702883
NM_006261.5(PROP1):c.152G>T (p.Gly51Val) rs2233783
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup) rs1554182643
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) rs1554182481
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del) rs1554182637
NM_006261.5(PROP1):c.51C>G (p.Val17=) rs760446926
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.618G>A (p.Leu206=) rs765098843
NM_006261.5(PROP1):c.623dup (p.Cys208fs) rs886060474
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.652dup (p.Ser218fs) rs1554182363
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
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>A (p.Arg127Gln) rs199799627
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.730G>A (p.Ala244Thr) rs1594952158
NM_021728.4(OTX2):c.96G>T (p.Pro32=) rs1892046623
NM_033343.4(LHX4):c.*17C>T rs116482990
NM_033343.4(LHX4):c.*221G>T rs1648926689
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.1070G>A (p.Gly357Glu)
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
NM_033343.4(LHX4):c.269C>G (p.Thr90Arg) rs773975101
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) rs1553282666
NM_033343.4(LHX4):c.364C>T (p.Arg122Trp)
NM_033343.4(LHX4):c.37_39del (p.Val13del)
NM_033343.4(LHX4):c.451+15C>T rs886045598
NM_033343.4(LHX4):c.451G>C (p.Asp151His)
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842
NM_033343.4(LHX4):c.486C>A (p.Thr162=) rs183432227
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) rs2149266749
NM_033343.4(LHX4):c.743A>T (p.Asp248Val)
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)
NM_033343.4(LHX4):c.83C>T (p.Pro28Leu) rs886045597
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp) rs147491286
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.1003T>C (p.Ser335Pro)
NM_178138.6(LHX3):c.1092C>T (p.Asn364=) rs886063702
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) rs1341469393
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.804G>A (p.Pro268=) rs771201500
NM_178138.6(LHX3):c.819C>T (p.Tyr273=) rs373923718
NM_178138.6(LHX3):c.915G>A (p.Gln305=) rs548140963
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup) rs2131036367

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