ClinVar Miner

List of variants reported as likely benign for familial bicuspid aortic valve

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 484
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly) rs374058045 0.00142
NM_005585.5(SMAD6):c.336C>A (p.Gly112=) rs371330988 0.00123
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_005585.5(SMAD6):c.290G>A (p.Gly97Glu) rs566777509 0.00089
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_005585.5(SMAD6):c.1029G>T (p.Val343=) rs139975027 0.00041
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala) rs543015692 0.00030
NM_005585.5(SMAD6):c.858C>T (p.Asp286=) rs141679164 0.00028
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) rs368311885 0.00025
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288 0.00024
NM_005585.5(SMAD6):c.224G>A (p.Arg75Gln) rs373376338 0.00024
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_005585.5(SMAD6):c.240G>A (p.Ala80=) rs937555039 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_181486.4(TBX5):c.600G>T (p.Ala200=) rs139329918 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_181486.4(TBX5):c.510+13G>T rs192482520 0.00018
NM_005585.5(SMAD6):c.636C>T (p.Asp212=) rs575612166 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_005585.5(SMAD6):c.956C>T (p.Ala319Val) rs148705603 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_181486.4(TBX5):c.1381G>A (p.Val461Met) rs201152128 0.00015
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_181486.4(TBX5):c.834T>C (p.Ser278=) rs142609815 0.00014
NM_005585.5(SMAD6):c.375C>T (p.Thr125=) rs767379771 0.00013
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 0.00012
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_005585.5(SMAD6):c.141G>A (p.Pro47=) rs1004603974 0.00010
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_005585.5(SMAD6):c.1191C>T (p.Pro397=) rs551875695 0.00009
NM_005585.5(SMAD6):c.414C>T (p.Pro138=) rs1352636701 0.00009
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_005585.5(SMAD6):c.687C>T (p.Leu229=) rs531829825 0.00007
NM_005585.5(SMAD6):c.818-11C>T rs766626508 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_005585.5(SMAD6):c.180C>G (p.Val60=) rs981335329 0.00006
NM_005585.5(SMAD6):c.648C>G (p.Gly216=) rs1035549645 0.00006
NM_005585.5(SMAD6):c.81C>T (p.Ser27=) rs1167279905 0.00006
NM_005585.5(SMAD6):c.93T>C (p.Gly31=) rs780659575 0.00006
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_181486.4(TBX5):c.1293C>G (p.Thr431=) rs143971376 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.204C>T (p.His68=) rs375854421 0.00006
NM_005585.5(SMAD6):c.1137G>A (p.Ser379=) rs1376483272 0.00005
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly) rs200004068 0.00005
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_005585.5(SMAD6):c.1206C>G (p.Ala402=) rs565415984 0.00004
NM_005585.5(SMAD6):c.855C>T (p.Arg285=) rs774721819 0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_181486.4(TBX5):c.1443C>T (p.Thr481=) rs137928706 0.00004
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_181486.4(TBX5):c.15C>T (p.Asp5=) rs767487291 0.00004
NM_181486.4(TBX5):c.576T>C (p.Asn192=) rs201212120 0.00004
NM_181486.4(TBX5):c.639A>G (p.Ala213=) rs149274578 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_005585.5(SMAD6):c.1173C>T (p.Ile391=) rs1215677844 0.00003
NM_005585.5(SMAD6):c.1365C>T (p.Ala455=) rs1351701797 0.00003
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203 0.00003
NM_005585.5(SMAD6):c.573G>C (p.Leu191=) rs778199794 0.00003
NM_005585.5(SMAD6):c.643C>T (p.Leu215=) rs1416518211 0.00003
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) rs757373430 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.2588-5C>T rs764684418 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228 0.00003
NM_181486.4(TBX5):c.1113G>A (p.Glu371=) rs757158327 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.1242C>T (p.Thr414=) rs370133092 0.00003
NM_181486.4(TBX5):c.242+9G>T rs186666277 0.00003
NM_181486.4(TBX5):c.276G>C (p.Thr92=) rs773971213 0.00003
NM_181486.4(TBX5):c.363-6A>G rs757819289 0.00003
NM_005585.5(SMAD6):c.135G>A (p.Pro45=) rs868172579 0.00002
NM_005585.5(SMAD6):c.618G>A (p.Val206=) rs776635009 0.00002
NM_005585.5(SMAD6):c.816C>G (p.Pro272=) rs748073570 0.00002
NM_005585.5(SMAD6):c.817+17G>A rs770785932 0.00002
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) rs377472138 0.00002
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_181486.4(TBX5):c.1493C>A (p.Ser498Tyr) rs1474068722 0.00002
NM_181486.4(TBX5):c.465C>T (p.Phe155=) rs778977800 0.00002
NM_181486.4(TBX5):c.612C>T (p.His204=) rs200326827 0.00002
NM_181486.4(TBX5):c.669G>A (p.Thr223=) rs376519728 0.00002
NM_005585.5(SMAD6):c.1080A>T (p.Leu360=) rs773981348 0.00001
NM_005585.5(SMAD6):c.1146A>C (p.Arg382=) rs755122573 0.00001
NM_005585.5(SMAD6):c.1161C>T (p.Ile387=) rs777669717 0.00001
NM_005585.5(SMAD6):c.1194C>T (p.Asp398=) rs777092566 0.00001
NM_005585.5(SMAD6):c.1215C>G (p.Arg405=) rs899021608 0.00001
NM_005585.5(SMAD6):c.1257G>A (p.Ala419=) rs771448780 0.00001
NM_005585.5(SMAD6):c.1347G>T (p.Ala449=) rs764124420 0.00001
NM_005585.5(SMAD6):c.1401C>T (p.Ser467=) rs1303185082 0.00001
NM_005585.5(SMAD6):c.192C>T (p.Ala64=) rs1242699041 0.00001
NM_005585.5(SMAD6):c.25C>T (p.Leu9=) rs1055162146 0.00001
NM_005585.5(SMAD6):c.267C>T (p.Pro89=) rs896888252 0.00001
NM_005585.5(SMAD6):c.351C>T (p.Pro117=) rs770962715 0.00001
NM_005585.5(SMAD6):c.384C>T (p.Leu128=) rs752593472 0.00001
NM_005585.5(SMAD6):c.411G>C (p.Ala137=) rs1555434217 0.00001
NM_005585.5(SMAD6):c.477C>G (p.Arg159=) rs1278854033 0.00001
NM_005585.5(SMAD6):c.502C>T (p.Leu168=) rs1465389619 0.00001
NM_005585.5(SMAD6):c.528G>C (p.Thr176=) rs1315861259 0.00001
NM_005585.5(SMAD6):c.606G>A (p.Pro202=) rs892811980 0.00001
NM_005585.5(SMAD6):c.642C>G (p.Arg214=) rs1392322147 0.00001
NM_005585.5(SMAD6):c.72A>G (p.Glu24=) rs922540858 0.00001
NM_005585.5(SMAD6):c.730C>T (p.Leu244=) rs1042398681 0.00001
NM_005585.5(SMAD6):c.765C>T (p.Asp255=) rs1375800482 0.00001
NM_005585.5(SMAD6):c.768C>G (p.Gly256=) rs770427556 0.00001
NM_005585.5(SMAD6):c.874+8T>C rs780559917 0.00001
NM_005585.5(SMAD6):c.875-10C>T rs1006453758 0.00001
NM_005585.5(SMAD6):c.882C>T (p.Ser294=) rs769894803 0.00001
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe) rs200374822 0.00001
NM_005585.5(SMAD6):c.891A>G (p.Thr297=) rs759799681 0.00001
NM_005585.5(SMAD6):c.952+8T>C rs749303894 0.00001
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 0.00001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) rs769259782 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=) rs767493892 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) rs759976245 0.00001
NM_181486.4(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456 0.00001
NM_181486.4(TBX5):c.1302C>T (p.Pro434=) rs1231034401 0.00001
NM_181486.4(TBX5):c.1380C>T (p.Ser460=) rs575162861 0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) rs764756835 0.00001
NM_181486.4(TBX5):c.327C>T (p.Ala109=) rs749667596 0.00001
NM_181486.4(TBX5):c.456C>T (p.Leu152=) rs775748269 0.00001
NM_181486.4(TBX5):c.579A>G (p.Gly193=) rs967802452 0.00001
NM_181486.4(TBX5):c.664-14C>T rs751285432 0.00001
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp) rs186183947 0.00001
NM_181486.4(TBX5):c.732G>T (p.Leu244=) rs769541948 0.00001
NM_181486.4(TBX5):c.768C>T (p.Pro256=) rs370805715 0.00001
NM_005585.5(SMAD6):c.1005G>A (p.Ala335=)
NM_005585.5(SMAD6):c.102C>T (p.Asp34=) rs1197212804
NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)
NM_005585.5(SMAD6):c.1053C>T (p.Asp351=) rs1166776083
NM_005585.5(SMAD6):c.1059C>T (p.Ala353=)
NM_005585.5(SMAD6):c.1068C>T (p.Ile356=)
NM_005585.5(SMAD6):c.1101C>T (p.Cys367=)
NM_005585.5(SMAD6):c.1119G>C (p.Leu373=)
NM_005585.5(SMAD6):c.1125G>A (p.Gln375=)
NM_005585.5(SMAD6):c.1236C>T (p.Val412=)
NM_005585.5(SMAD6):c.1242C>G (p.Ser414=) rs1469006490
NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)
NM_005585.5(SMAD6):c.1263C>T (p.Gly421=)
NM_005585.5(SMAD6):c.1278C>T (p.Val426=)
NM_005585.5(SMAD6):c.1299C>G (p.Gly433=)
NM_005585.5(SMAD6):c.12C>T (p.Ser4=)
NM_005585.5(SMAD6):c.1311G>A (p.Lys437=)
NM_005585.5(SMAD6):c.1350C>T (p.Pro450=)
NM_005585.5(SMAD6):c.135G>C (p.Pro45=) rs868172579
NM_005585.5(SMAD6):c.1362C>T (p.Ala454=) rs749785381
NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)
NM_005585.5(SMAD6):c.1479C>T (p.Asn493=)
NM_005585.5(SMAD6):c.153G>A (p.Glu51=)
NM_005585.5(SMAD6):c.168C>T (p.Gly56=)
NM_005585.5(SMAD6):c.171C>G (p.Arg57=) rs753456441
NM_005585.5(SMAD6):c.178G>T (p.Val60Phe)
NM_005585.5(SMAD6):c.18C>G (p.Arg6=)
NM_005585.5(SMAD6):c.192C>G (p.Ala64=) rs1242699041
NM_005585.5(SMAD6):c.201G>A (p.Arg67=) rs2140580891
NM_005585.5(SMAD6):c.204C>T (p.Pro68=)
NM_005585.5(SMAD6):c.210C>T (p.Asp70=)
NM_005585.5(SMAD6):c.21G>A (p.Ser7=) rs2140580360
NM_005585.5(SMAD6):c.240G>C (p.Ala80=)
NM_005585.5(SMAD6):c.249C>G (p.Arg83=)
NM_005585.5(SMAD6):c.249C>T (p.Arg83=)
NM_005585.5(SMAD6):c.261G>A (p.Gly87=) rs1595756699
NM_005585.5(SMAD6):c.264C>A (p.Gly88=)
NM_005585.5(SMAD6):c.264C>G (p.Gly88=) rs547033777
NM_005585.5(SMAD6):c.264C>T (p.Gly88=)
NM_005585.5(SMAD6):c.270G>A (p.Pro90=)
NM_005585.5(SMAD6):c.282G>A (p.Ser94=)
NM_005585.5(SMAD6):c.282G>C (p.Ser94=)
NM_005585.5(SMAD6):c.288A>G (p.Pro96=) rs957321968
NM_005585.5(SMAD6):c.291G>C (p.Gly97=) rs1454366386
NM_005585.5(SMAD6):c.310C>T (p.Leu104=)
NM_005585.5(SMAD6):c.339G>C (p.Pro113=)
NM_005585.5(SMAD6):c.342C>T (p.Gly114=)
NM_005585.5(SMAD6):c.390G>C (p.Ser130=)
NM_005585.5(SMAD6):c.396G>C (p.Arg132=)
NM_005585.5(SMAD6):c.396G>T (p.Arg132=) rs2140581526
NM_005585.5(SMAD6):c.411G>A (p.Ala137=) rs1555434217
NM_005585.5(SMAD6):c.447C>G (p.Ala149=)
NM_005585.5(SMAD6):c.459G>T (p.Ala153=)
NM_005585.5(SMAD6):c.465C>T (p.Gly155=)
NM_005585.5(SMAD6):c.471G>C (p.Arg157=)
NM_005585.5(SMAD6):c.489G>C (p.Ser163=)
NM_005585.5(SMAD6):c.493C>T (p.Leu165=)
NM_005585.5(SMAD6):c.495G>A (p.Leu165=) rs749500105
NM_005585.5(SMAD6):c.496C>T (p.Leu166=) rs2140581849
NM_005585.5(SMAD6):c.501G>A (p.Leu167=)
NM_005585.5(SMAD6):c.513A>G (p.Glu171=) rs1893037828
NM_005585.5(SMAD6):c.516C>G (p.Leu172=) rs772164418
NM_005585.5(SMAD6):c.516C>T (p.Leu172=)
NM_005585.5(SMAD6):c.528G>A (p.Thr176=)
NM_005585.5(SMAD6):c.531C>T (p.Tyr177=) rs760571406
NM_005585.5(SMAD6):c.538C>T (p.Leu180=)
NM_005585.5(SMAD6):c.558C>T (p.Arg186=)
NM_005585.5(SMAD6):c.561G>A (p.Ser187=)
NM_005585.5(SMAD6):c.561G>C (p.Ser187=)
NM_005585.5(SMAD6):c.562C>T (p.Leu188=)
NM_005585.5(SMAD6):c.573G>T (p.Leu191=) rs778199794
NM_005585.5(SMAD6):c.576G>A (p.Leu192=)
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.609C>G (p.Gly203=)
NM_005585.5(SMAD6):c.633C>A (p.Ala211=)
NM_005585.5(SMAD6):c.633C>T (p.Ala211=)
NM_005585.5(SMAD6):c.63C>T (p.Asp21=) rs780992085
NM_005585.5(SMAD6):c.642C>T (p.Arg214=)
NM_005585.5(SMAD6):c.651C>G (p.Gly217=)
NM_005585.5(SMAD6):c.654G>A (p.Gln218=)
NM_005585.5(SMAD6):c.672G>C (p.Leu224=)
NM_005585.5(SMAD6):c.681C>T (p.Gly227=)
NM_005585.5(SMAD6):c.702C>T (p.Asp234=) rs779292711
NM_005585.5(SMAD6):c.703C>T (p.Leu235=)
NM_005585.5(SMAD6):c.714C>A (p.Ala238=) rs746993602
NM_005585.5(SMAD6):c.714C>T (p.Ala238=) rs746993602
NM_005585.5(SMAD6):c.729C>G (p.Pro243=)
NM_005585.5(SMAD6):c.729C>T (p.Pro243=)
NM_005585.5(SMAD6):c.732G>A (p.Leu244=) rs1180155842
NM_005585.5(SMAD6):c.747C>T (p.Ser249=)
NM_005585.5(SMAD6):c.750C>T (p.Phe250=) rs1164002736
NM_005585.5(SMAD6):c.768C>T (p.Gly256=)
NM_005585.5(SMAD6):c.774C>G (p.Thr258=)
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545
NM_005585.5(SMAD6):c.789C>T (p.Pro263=)
NM_005585.5(SMAD6):c.798C>T (p.Phe266=) rs758794528
NM_005585.5(SMAD6):c.802C>A (p.Arg268=)
NM_005585.5(SMAD6):c.807C>T (p.Leu269=)
NM_005585.5(SMAD6):c.817+16C>T
NM_005585.5(SMAD6):c.817+17G>C
NM_005585.5(SMAD6):c.818-17T>C
NM_005585.5(SMAD6):c.819A>G (p.Glu273=)
NM_005585.5(SMAD6):c.84C>T (p.Gly28=)
NM_005585.5(SMAD6):c.861G>A (p.Glu287=)
NM_005585.5(SMAD6):c.874+15C>T
NM_005585.5(SMAD6):c.874+20T>G
NM_005585.5(SMAD6):c.874+8_874+9del rs2140596524
NM_005585.5(SMAD6):c.875-9C>G
NM_005585.5(SMAD6):c.877C>T (p.Leu293=)
NM_005585.5(SMAD6):c.888C>T (p.Ser296=)
NM_005585.5(SMAD6):c.892T>C (p.Leu298=)
NM_005585.5(SMAD6):c.900C>T (p.Tyr300=)
NM_005585.5(SMAD6):c.93T>A (p.Gly31=) rs780659575
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_005585.5(SMAD6):c.953-17dup rs2140680944
NM_005585.5(SMAD6):c.953-18C>A rs938974070
NM_005585.5(SMAD6):c.953-20T>C rs2140680938
NM_005585.5(SMAD6):c.954C>T (p.Asp318=)
NM_005585.5(SMAD6):c.99C>T (p.Gly33=)
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=) rs777019253
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=) rs377165086
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_181486.4(TBX5):c.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
NM_181486.4(TBX5):c.1206A>G (p.Pro402=) rs763129045
NM_181486.4(TBX5):c.1233C>T (p.Thr411=) rs188839350
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
NM_181486.4(TBX5):c.1451C>A (p.Pro484His) rs768644203
NM_181486.4(TBX5):c.147+13C>G
NM_181486.4(TBX5):c.147+8_147+10del rs1593886226
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
NM_181486.4(TBX5):c.1518C>T (p.His506=)
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.242+15T>C
NM_181486.4(TBX5):c.242+18G>A
NM_181486.4(TBX5):c.243-13C>T
NM_181486.4(TBX5):c.243-20_243-5del rs2136418321
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
NM_181486.4(TBX5):c.362+13G>T
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
NM_181486.4(TBX5):c.510+8C>A
NM_181486.4(TBX5):c.511-9del rs775035000
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
NM_181486.4(TBX5):c.555C>T (p.Ile185=) rs142631741
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.564G>T (p.Ala188=)
NM_181486.4(TBX5):c.57A>C (p.Ala19=) rs567785340
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.663+16A>G rs752606041
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
NM_181486.4(TBX5):c.736A>C (p.Arg246=)
NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
NM_181486.4(TBX5):c.755+11G>A
NM_181486.4(TBX5):c.755+17del rs1412151452
NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
NM_181486.4(TBX5):c.982+11T>G
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+20G>A rs1231635306
NM_181486.4(TBX5):c.983-13C>T
NM_181486.4(TBX5):c.983-8C>T

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