ClinVar Miner

List of variants studied for adenocarcinoma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 480
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HGVS dbSNP gnomAD frequency
NM_004360.4(CDH1):c.*2047A>G rs8045438 0.98944
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_000245.4(MET):c.*1428G>A rs1621 0.63315
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_000245.4(MET):c.*2240G>A rs6566 0.34157
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.*1028A>G rs41738 0.34071
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000245.4(MET):c.*1326A>G rs41739 0.34010
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_004360.5(CDH1):c.*1120T>C rs13689 0.18034
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_004360.5(CDH1):c.*589C>T rs8049282 0.07789
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000245.4(MET):c.*684G>A rs12540703 0.05662
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_004360.5(CDH1):c.531+10G>C rs33963999 0.03907
NM_004360.5(CDH1):c.2253C>T (p.Asn751=) rs33964119 0.03869
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_000245.4(MET):c.*216C>A rs149188493 0.02223
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_004360.5(CDH1):c.*621C>T rs33956791 0.02011
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_004360.5(CDH1):c.*410A>T rs33956133 0.01714
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_004360.5(CDH1):c.*1873G>A rs35779350 0.01533
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_000245.4(MET):c.-14-13C>T rs36080330 0.00978
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_004360.4(CDH1):c.*2050T>A rs181705992 0.00746
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00740
NM_004360.5(CDH1):c.*1835T>C rs13339481 0.00738
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_004360.5(CDH1):c.*1662G>C rs33967108 0.00618
NM_004360.5(CDH1):c.*988G>A rs9282653 0.00604
NM_000245.4(MET):c.*2202G>A rs14456 0.00515
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_000245.4(MET):c.*1987C>T rs76322625 0.00499
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_000245.4(MET):c.*1220G>A rs139535303 0.00336
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_000245.4(MET):c.*787G>A rs143472935 0.00290
NM_000245.4(MET):c.*231T>G rs59399612 0.00287
NM_000245.4(MET):c.*1010G>T rs150534017 0.00272
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000245.4(MET):c.*87G>A rs41281081 0.00250
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_000245.4(MET):c.*385G>A rs181068390 0.00235
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_004360.5(CDH1):c.-54G>C rs5030874 0.00208
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_000245.4(MET):c.*201C>T rs1129355 0.00192
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000245.4(MET):c.*2100C>T rs190739281 0.00165
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000245.4(MET):c.*1871G>A rs139377965 0.00152
NM_000245.4(MET):c.*1224C>T rs149713628 0.00150
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_000245.4(MET):c.*656G>A rs531456758 0.00104
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_000245.4(MET):c.*602C>T rs147343288 0.00093
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_000245.4(MET):c.*1886T>A rs536185931 0.00076
NM_000245.4(MET):c.*944A>G rs565768785 0.00076
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00074
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_004360.5(CDH1):c.*1693G>T rs138279201 0.00069
NM_004360.5(CDH1):c.*746C>A rs140240766 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.*1636C>T rs186175651 0.00057
NM_004360.5(CDH1):c.*424T>A rs867174076 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_004360.5(CDH1):c.*346A>T rs754600872 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000245.4(MET):c.-64G>T rs866509744 0.00042
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_019040.5(ELP4):c.*2716T>C rs549835579 0.00041
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_004360.5(CDH1):c.*623A>G rs142125691 0.00034
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_000245.4(MET):c.*1637G>A rs534514626 0.00026
NM_000245.4(MET):c.*655C>T rs563978117 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_000245.4(MET):c.*2079G>A rs757859772 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_019040.5(ELP4):c.*4571A>G rs1029065786 0.00024
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_000245.4(MET):c.*1784T>A rs554029534 0.00023
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_004360.5(CDH1):c.*1872C>T rs545034372 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00021
NM_004360.5(CDH1):c.*196T>G rs576484193 0.00021
NM_000245.4(MET):c.*1593G>A rs764929802 0.00020
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_019040.5(ELP4):c.*2387C>T rs990066045 0.00020
NM_000245.4(MET):c.3522+12G>T rs200624981 0.00019
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_000245.4(MET):c.2365-14G>T rs769247886 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_004360.5(CDH1):c.*1545T>C rs186584057 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_019040.5(ELP4):c.*4323G>T rs923696320 0.00011
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_000245.4(MET):c.-66G>T rs886061941 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_000245.4(MET):c.*1714C>A rs747850853 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_019040.5(ELP4):c.*2845T>C rs1006923180 0.00008
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_000245.4(MET):c.*1878A>G rs770910579 0.00007
NM_000245.4(MET):c.960G>A (p.Ala320=) rs191198682 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_000245.4(MET):c.*803T>A rs1001801655 0.00006
NM_000245.4(MET):c.12C>T (p.Pro4=) rs772251895 0.00006
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_004360.5(CDH1):c.*1076T>C rs541517386 0.00006
NM_004360.5(CDH1):c.*1691G>T rs373181046 0.00006
NM_004360.5(CDH1):c.*192C>T rs576309125 0.00006
NM_004360.5(CDH1):c.*575A>C rs886052242 0.00006
NM_004360.5(CDH1):c.*615G>A rs148655354 0.00006
NM_004360.5(CDH1):c.*959C>A rs886052243 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*4441T>C rs1452069622 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) rs45612435 0.00005
NM_000245.4(MET):c.632T>G (p.Leu211Trp) rs45483396 0.00005
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_000245.4(MET):c.*221G>A rs886061946 0.00004
NM_000245.4(MET):c.*76C>T rs527496385 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1320A>G (p.Thr440=) rs763726060 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_004360.5(CDH1):c.*1049A>C rs886052244 0.00004
NM_004360.5(CDH1):c.*1285T>C rs369689471 0.00004
NM_004360.5(CDH1):c.*193G>C rs886052238 0.00004
NM_004360.5(CDH1):c.-41C>A rs730881658 0.00004
NM_004360.5(CDH1):c.-63C>A rs572272864 0.00004
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=) rs587776398 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_004360.5(CDH1):c.2280C>T (p.Gly760=) rs768547540 0.00004
NM_019040.5(ELP4):c.*3207T>C rs1010978990 0.00004
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_000245.4(MET):c.*2051C>T rs886061951 0.00003
NM_000245.4(MET):c.*296G>C rs1237383281 0.00003
NM_000245.4(MET):c.*397A>G rs559231345 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.639G>A (p.Ser213=) rs587780738 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_004360.5(CDH1):c.*209C>T rs35942505 0.00003
NM_004360.5(CDH1):c.*409T>A rs778711236 0.00003
NM_004360.5(CDH1):c.1689C>T (p.Ala563=) rs587780786 0.00003
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser) rs587781898 0.00003
NM_004360.5(CDH1):c.2331C>T (p.Asp777=) rs114265540 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3303G>A rs994285025 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_000245.4(MET):c.*530G>A rs185897782 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000245.4(MET):c.4074C>T (p.Asn1358=) rs772860611 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_004360.5(CDH1):c.*1435A>T rs886052245 0.00002
NM_004360.5(CDH1):c.*582C>A rs920956371 0.00002
NM_004360.5(CDH1):c.2079C>T (p.Gly693=) rs771993728 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_000245.4(MET):c.*1477C>T rs750893461 0.00001
NM_000245.4(MET):c.*41A>G rs771518812 0.00001
NM_000245.4(MET):c.1693A>G (p.Ile565Val) rs745479104 0.00001
NM_000245.4(MET):c.2673C>T (p.Ala891=) rs561131509 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000245.4(MET):c.600C>G (p.Thr200=) rs1225303075 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.*272T>G rs934715799 0.00001
NM_001368894.2(PAX6):c.*626G>C rs1250874661 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_004360.5(CDH1):c.*172A>C rs886052237 0.00001
NM_004360.5(CDH1):c.*1765A>G rs1343770513 0.00001
NM_004360.5(CDH1):c.*774A>G rs549231645 0.00001
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr) rs758764445 0.00001
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala) rs771064558 0.00001
NM_004360.5(CDH1):c.2219C>A (p.Pro740His) rs730881669 0.00001
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=) rs786202613 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004360.5(CDH1):c.462A>G (p.Arg154=) rs1057520261 0.00001
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073 0.00001
NM_004360.5(CDH1):c.794A>T (p.Glu265Val) rs587782728 0.00001
NM_004360.5(CDH1):c.867G>A (p.Ala289=) rs754143182 0.00001
NM_019040.5(ELP4):c.*1404G>C rs748381549 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_000245.4(MET):c.*105C>A rs886061945
NM_000245.4(MET):c.*1233G>A rs560568639
NM_000245.4(MET):c.*1244G>A rs144559852
NM_000245.4(MET):c.*1244G>T rs144559852
NM_000245.4(MET):c.*1359T>C rs1795712500
NM_000245.4(MET):c.*1460C>G rs886061949
NM_000245.4(MET):c.*1809C>T rs868554436
NM_000245.4(MET):c.*1882G>T rs886061950
NM_000245.4(MET):c.*1909A>G rs1795730503
NM_000245.4(MET):c.*1929A>G rs1321841621
NM_000245.4(MET):c.*2134T>A rs144156652
NM_000245.4(MET):c.*2147T>C rs1795737615
NM_000245.4(MET):c.*2202G>T rs14456
NM_000245.4(MET):c.*2245G>T rs1447240969
NM_000245.4(MET):c.*27C>A rs1795669540
NM_000245.4(MET):c.*2G>T rs1795668471
NM_000245.4(MET):c.*359G>A rs1795682838
NM_000245.4(MET):c.*376G>T rs553602374
NM_000245.4(MET):c.*422T>A rs886061947
NM_000245.4(MET):c.*438T>A rs955990225
NM_000245.4(MET):c.*480T>C rs1207133647
NM_000245.4(MET):c.*493A>C rs1795687373
NM_000245.4(MET):c.*786C>T rs935854365
NM_000245.4(MET):c.*984C>T rs573510587
NM_000245.4(MET):c.*995G>T rs886061948
NM_000245.4(MET):c.-109C>T rs1796009308
NM_000245.4(MET):c.-157T>G rs886061940
NM_000245.4(MET):c.-165C>G rs886061939
NM_000245.4(MET):c.-180C>A rs886061938
NM_000245.4(MET):c.-182C>A rs536603694
NM_000245.4(MET):c.-35C>G rs1796012626
NM_000245.4(MET):c.1011G>A (p.Leu337=) rs886061942
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1863-5dup rs766900241
NM_000245.4(MET):c.1965+11T>G rs780230492
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp) rs1794955289
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.847T>C (p.Ser283Pro) rs1791505194
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*247T>A rs1468270124
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376
NM_004360.5(CDH1):c.*1176T>G rs9282654
NM_004360.5(CDH1):c.*1591T>C rs886052246
NM_004360.5(CDH1):c.*1974_*1978del rs557163298
NM_004360.5(CDH1):c.*221del rs145920869
NM_004360.5(CDH1):c.*221dup rs145920869
NM_004360.5(CDH1):c.*236C>T rs1961559604
NM_004360.5(CDH1):c.*309C>T rs562205897
NM_004360.5(CDH1):c.*474_*475dup rs113202135
NM_004360.5(CDH1):c.*475del rs113202135
NM_004360.5(CDH1):c.*627T>G rs1567518268
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser) rs116093741
NM_004360.5(CDH1):c.1137+9A>T rs780705655
NM_004360.5(CDH1):c.1170C>T (p.Asn390=) rs766505270
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1360G>C (p.Val454Leu) rs587780112
NM_004360.5(CDH1):c.1366G>T (p.Val456Leu) rs974965262
NM_004360.5(CDH1):c.1716T>C (p.Ser572=) rs876660176
NM_004360.5(CDH1):c.1887A>G (p.Glu629=) rs886052236
NM_004360.5(CDH1):c.2164+17dup rs34939176
NM_004360.5(CDH1):c.597A>G (p.Thr199=) rs1960738532
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*1615A>C rs1171230486
NM_019040.5(ELP4):c.*1626G>A rs1269133831
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*2041C>G rs544117348
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2522G>T rs1948594512
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*2992G>A rs1948639449
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3588A>G rs906435505
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3706T>A rs1948715280
NM_019040.5(ELP4):c.*3715T>A rs558836571
NM_019040.5(ELP4):c.*3772G>C rs865924000
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4056G>A rs1948752515
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4542G>T rs1948792866
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714

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