ClinVar Miner

List of variants reported as benign for aortic valve disorder

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_017617.5(NOTCH1):c.2970-31A>G rs3124598 0.66710
NM_017617.5(NOTCH1):c.1556-43T>C rs4880099 0.63476
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_017617.5(NOTCH1):c.5473-43T>C rs3124594 0.62391
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
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.1442-43C>T rs9411254 0.40689
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_005585.5(SMAD6):c.875-22C>A rs2278604 0.23475
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_017617.5(NOTCH1):c.6180+44T>C rs9632944 0.12085
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_017617.5(NOTCH1):c.3171+42G>A rs11145765 0.08084
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) rs368960350 0.00546
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946 0.00538
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901 0.00505
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581 0.00472
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345 0.00297
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_000501.4(ELN):c.1858+20G>A rs200965648 0.00270
NM_005585.5(SMAD6):c.817+9G>C rs200726236 0.00239
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_181486.4(TBX5):c.804C>G (p.Ala268=) rs35110399 0.00143
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_000501.4(ELN):c.469+14G>A rs41347751 0.00103
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_000501.4(ELN):c.1358-268A>G rs374066807 0.00102
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 0.00069
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793 0.00064
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_181486.4(TBX5):c.747A>G (p.Arg249=) rs138552878 0.00051
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_000501.4(ELN):c.1621+12G>A rs200937895 0.00046
NM_005585.5(SMAD6):c.447C>T (p.Ala149=) rs181184476 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 0.00045
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_000501.4(ELN):c.1747+82C>A rs186744935 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_181486.4(TBX5):c.948G>A (p.Glu316=) rs767086503 0.00028
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_000501.4(ELN):c.1414+19C>T rs201440090 0.00025
NM_181486.4(TBX5):c.147+13C>A rs201290379 0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 0.00024
NM_000501.4(ELN):c.1747+83C>T rs191593990 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_000501.4(ELN):c.1358-236G>A rs529133775 0.00013
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_000501.4(ELN):c.1918+19T>G rs557259683 0.00009
NM_005585.5(SMAD6):c.405C>T (p.Ala135=) rs538097406 0.00009
NM_181486.4(TBX5):c.1152G>A (p.Ala384=) rs200073406 0.00009
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253 0.00008
NM_000501.4(ELN):c.133+11T>C rs28763980 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=) rs186780790 0.00007
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.643+16G>A rs199662424 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_181486.4(TBX5):c.1425C>G (p.Gly475=) rs199729532 0.00004
NM_000501.4(ELN):c.1404C>T (p.Ala468=) rs189952915 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_000501.4(ELN):c.686-17G>A rs149812011 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00002
NM_000501.4(ELN):c.1747+80C>T rs369548102 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.743-14C>T rs536768165 0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln) rs557758851 0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) rs117965596 0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met) rs200382742 0.00001
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del) rs1563852165
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.949+8_949+19del
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_181486.4(TBX5):c.1157C>A (p.Pro386His) rs771857554
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe) rs190881877

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