ClinVar Miner

List of variants reported as uncertain significance for congenital glaucoma

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 335
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_000104.4(CYP1B1):c.*1027del rs144188082 0.00927
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00364
NM_000104.4(CYP1B1):c.*981T>C rs9341262 0.00358
NM_000428.3(LTBP2):c.*705C>T rs41307092 0.00320
NM_000104.4(CYP1B1):c.-2G>A rs9341245 0.00309
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000104.4(CYP1B1):c.*1062G>T rs185371002 0.00297
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_000104.4(CYP1B1):c.*2333G>A rs35320531 0.00263
NM_000104.4(CYP1B1):c.*2349G>A rs9341268 0.00257
NM_000104.4(CYP1B1):c.*3024T>C rs532039339 0.00257
NM_000104.4(CYP1B1):c.*2207G>A rs9341267 0.00244
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_000104.4(CYP1B1):c.*118C>G rs1799885 0.00226
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_000104.4(CYP1B1):c.*1460A>G rs137915099 0.00198
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) rs4987137 0.00191
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00180
NM_000428.3(LTBP2):c.*1631C>T rs183119073 0.00178
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000104.4(CYP1B1):c.-84T>C rs886055999 0.00139
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_000104.4(CYP1B1):c.*1056G>C rs187540802 0.00137
NM_000104.4(CYP1B1):c.*380G>A rs35007750 0.00137
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) rs141245683 0.00121
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_000104.4(CYP1B1):c.*466G>A rs9341260 0.00116
NM_000428.3(LTBP2):c.-55G>A rs571506111 0.00109
NM_000428.3(LTBP2):c.*2569G>A rs531824728 0.00094
NM_000428.3(LTBP2):c.*743G>A rs541978964 0.00092
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000104.4(CYP1B1):c.*1938G>A rs570132783 0.00085
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751 0.00082
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077 0.00072
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579 0.00068
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) rs144521879 0.00056
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976 0.00056
NM_000104.4(CYP1B1):c.*1075G>C rs77105857 0.00054
NM_000104.4(CYP1B1):c.*1746T>C rs34169771 0.00053
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486 0.00053
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile) rs145507464 0.00051
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259 0.00051
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) rs139904243 0.00048
NM_000104.4(CYP1B1):c.*115G>A rs555706078 0.00046
NM_000428.3(LTBP2):c.*945T>C rs374130664 0.00042
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_000428.3(LTBP2):c.*229C>T rs141989493 0.00038
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) rs137914200 0.00036
NM_000104.4(CYP1B1):c.*1781T>C rs750990195 0.00035
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=) rs113219139 0.00034
NM_000104.4(CYP1B1):c.*1005C>T rs35978993 0.00033
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
NM_000428.3(LTBP2):c.2789-9T>C rs368269193 0.00030
NM_000104.4(CYP1B1):c.*1683A>G rs189809220 0.00029
NM_000428.3(LTBP2):c.*312T>C rs534807623 0.00029
NM_000428.3(LTBP2):c.*167G>A rs574028105 0.00026
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407 0.00024
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) rs191944410 0.00022
NM_000104.4(CYP1B1):c.*2760C>A rs375588205 0.00021
NM_000428.3(LTBP2):c.*1005C>T rs541743695 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_000104.4(CYP1B1):c.*1798T>G rs900163227 0.00019
NM_000428.3(LTBP2):c.*1180C>T rs576929018 0.00019
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile) rs558742251 0.00019
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) rs148766628 0.00017
NM_000104.4(CYP1B1):c.487C>T (p.Arg163Cys) rs104894978 0.00016
NM_000428.3(LTBP2):c.*55G>A rs185374765 0.00016
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp) rs368249322 0.00015
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) rs148461905 0.00014
NM_000104.4(CYP1B1):c.239G>C (p.Arg80Pro) rs899277811 0.00014
NM_000459.5(TEK):c.2773G>A (p.Ala925Thr) rs138463877 0.00014
NM_000104.4(CYP1B1):c.*1269T>A rs570388762 0.00013
NM_000428.3(LTBP2):c.-170G>T rs892707408 0.00013
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585 0.00013
NM_000428.3(LTBP2):c.21C>G (p.Ala7=) rs757559806 0.00013
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) rs66583685 0.00012
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) rs147534770 0.00012
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) rs141230498 0.00012
NM_000104.4(CYP1B1):c.*1141A>G rs759611970 0.00011
NM_000104.4(CYP1B1):c.*917G>A rs3755026 0.00011
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) rs56339482 0.00011
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) rs75200417 0.00011
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) rs139734678 0.00011
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser) rs199581921 0.00011
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691 0.00010
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) rs745626701 0.00010
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr) rs368195399 0.00009
NM_000104.4(CYP1B1):c.*233A>G rs9341259 0.00008
NM_000104.4(CYP1B1):c.-80C>G rs894434388 0.00008
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr) rs201544164 0.00008
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884 0.00008
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022 0.00008
NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys) rs771737035 0.00007
NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser) rs377210850 0.00007
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) rs780375338 0.00007
NM_000428.3(LTBP2):c.*2026T>C rs886050748 0.00007
NM_000428.3(LTBP2):c.-64C>T rs886050762 0.00007
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709 0.00007
NM_000428.3(LTBP2):c.2908+9C>T rs1004486722 0.00007
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) rs150855472 0.00007
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_000104.4(CYP1B1):c.*1491G>T rs562799717 0.00006
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val) rs72549383 0.00006
NM_000428.3(LTBP2):c.*1743C>T rs781717691 0.00006
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg) rs776552082 0.00006
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) rs780864087 0.00006
NM_000104.4(CYP1B1):c.*2597A>G rs746236755 0.00005
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=) rs775908245 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126 0.00005
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655 0.00005
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) rs769155905 0.00005
NM_000428.3(LTBP2):c.4178-6G>A rs551478195 0.00005
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) rs370119182 0.00005
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) rs189020867 0.00005
NM_000104.4(CYP1B1):c.*1346A>G rs960122791 0.00004
NM_000104.4(CYP1B1):c.*2209A>G rs949462503 0.00004
NM_000104.4(CYP1B1):c.*2499T>C rs886055988 0.00004
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu) rs769402060 0.00004
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg) rs753847648 0.00004
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=) rs748708268 0.00004
NM_000428.3(LTBP2):c.*929A>G rs1175589944 0.00004
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr) rs925483356 0.00004
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823 0.00004
NM_000428.3(LTBP2):c.3278-15G>A rs201661499 0.00004
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) rs147213897 0.00004
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys) rs777450651 0.00004
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) rs557904436 0.00004
NM_000104.4(CYP1B1):c.*105C>T rs756083290 0.00003
NM_000104.4(CYP1B1):c.*1561A>C rs34474461 0.00003
NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln) rs747324108 0.00003
NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn) rs372685881 0.00003
NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val) rs749521942 0.00003
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691 0.00003
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp) rs180947562 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=) rs373253770 0.00003
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys) rs747333533 0.00003
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) rs764828666 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=) rs137871407 0.00003
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=) rs1194291909 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val) rs1435761349 0.00003
NM_000104.4(CYP1B1):c.*1173del rs3834137 0.00002
NM_000104.4(CYP1B1):c.*1611G>A rs572531079 0.00002
NM_000104.4(CYP1B1):c.-1-10C>T rs780269033 0.00002
NM_000428.3(LTBP2):c.*1170A>G rs886050749 0.00002
NM_000428.3(LTBP2):c.*1481C>T rs527271189 0.00002
NM_000428.3(LTBP2):c.*609A>C rs1323555762 0.00002
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611 0.00002
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser) rs775487511 0.00002
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser) rs759870336 0.00002
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755 0.00002
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754 0.00002
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775 0.00002
NM_000104.4(CYP1B1):c.*1079C>G rs886055994 0.00001
NM_000104.4(CYP1B1):c.*1601C>T rs886055992 0.00001
NM_000104.4(CYP1B1):c.*1730A>G rs886055991 0.00001
NM_000104.4(CYP1B1):c.*1895C>T rs886055990 0.00001
NM_000104.4(CYP1B1):c.*1910A>G rs1405956907 0.00001
NM_000104.4(CYP1B1):c.*1956A>G rs1235898139 0.00001
NM_000104.4(CYP1B1):c.*2151T>C rs886055989 0.00001
NM_000104.4(CYP1B1):c.*2498T>C rs572548236 0.00001
NM_000104.4(CYP1B1):c.*3086T>A rs969140341 0.00001
NM_000104.4(CYP1B1):c.*43C>T rs371252753 0.00001
NM_000104.4(CYP1B1):c.*661T>A rs886055995 0.00001
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg) rs886055997 0.00001
NM_000104.4(CYP1B1):c.1290C>G (p.Asp430Glu) rs201181935 0.00001
NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn) rs776848093 0.00001
NM_000104.4(CYP1B1):c.233C>A (p.Ala78Glu) rs1055845013 0.00001
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=) rs142995558 0.00001
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser) rs1156997078 0.00001
NM_000104.4(CYP1B1):c.381C>T (p.Ser127=) rs780857657 0.00001
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=) rs775055418 0.00001
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp) rs200724605 0.00001
NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys) rs886055998 0.00001
NM_000104.4(CYP1B1):c.818T>G (p.Leu273Arg) rs1357141706 0.00001
NM_000428.3(LTBP2):c.*1776C>T rs1378655630 0.00001
NM_000428.3(LTBP2):c.*206C>T rs192723743 0.00001
NM_000428.3(LTBP2):c.*2112G>A rs949885665 0.00001
NM_000428.3(LTBP2):c.-21A>G rs765474184 0.00001
NM_000428.3(LTBP2):c.-46G>C rs886050761 0.00001
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617 0.00001
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693 0.00001
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln) rs757892170 0.00001
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=) rs757918162 0.00001
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val) rs2087256544 0.00001
NM_000428.3(LTBP2):c.246G>A (p.Leu82=) rs748744542 0.00001
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335 0.00001
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.2788+15C>G rs376663839 0.00001
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893 0.00001
NM_000428.3(LTBP2):c.3400G>A (p.Glu1134Lys) rs748396734 0.00001
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416 0.00001
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg) rs760459796 0.00001
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) rs767484358 0.00001
NM_000428.3(LTBP2):c.3850C>T (p.Arg1284Cys) rs141033298 0.00001
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003 0.00001
NM_000428.3(LTBP2):c.4370-14G>A rs750045564 0.00001
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) rs769745393 0.00001
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu) rs1469851587 0.00001
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg) rs549156119 0.00001
NM_000428.3(LTBP2):c.713G>A (p.Arg238His) rs943163124 0.00001
NM_000428.3(LTBP2):c.970A>C (p.Arg324=) rs372209109 0.00001
NM_000459.5(TEK):c.922G>A (p.Gly308Arg) rs752184169 0.00001
NM_000104.4(CYP1B1):c.*1450T>C rs886055993
NM_000104.4(CYP1B1):c.*1544G>A rs1682376790
NM_000104.4(CYP1B1):c.*1766G>A rs1682371906
NM_000104.4(CYP1B1):c.*1908G>A rs34544682
NM_000104.4(CYP1B1):c.*1961G>C rs767403314
NM_000104.4(CYP1B1):c.*2289G>T rs1682355981
NM_000104.4(CYP1B1):c.*2304A>C rs909259463
NM_000104.4(CYP1B1):c.*2314dup rs561615550
NM_000104.4(CYP1B1):c.*2660T>A rs886055987
NM_000104.4(CYP1B1):c.*3064A>T rs1682335231
NM_000104.4(CYP1B1):c.*3078G>A rs886055986
NM_000104.4(CYP1B1):c.*493G>A rs886055996
NM_000104.4(CYP1B1):c.*688T>C rs1682396717
NM_000104.4(CYP1B1):c.*864T>C rs987237179
NM_000104.4(CYP1B1):c.*867dup rs200949126
NM_000104.4(CYP1B1):c.*879del rs4646433
NM_000104.4(CYP1B1):c.*945C>T rs1327335898
NM_000104.4(CYP1B1):c.*972T>C rs1682390062
NM_000104.4(CYP1B1):c.*980A>C rs34521017
NM_000104.4(CYP1B1):c.-197C>G rs886056001
NM_000104.4(CYP1B1):c.-360G>C rs886056002
NM_000104.4(CYP1B1):c.1043+6G>C rs1404755887
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.4(CYP1B1):c.1130A>G (p.Asn377Ser)
NM_000104.4(CYP1B1):c.1253C>T (p.Thr418Ile) rs1682424004
NM_000104.4(CYP1B1):c.1291C>T (p.Pro431Ser)
NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr) rs149049138
NM_000104.4(CYP1B1):c.1412T>A (p.Ile471Asn) rs147535955
NM_000104.4(CYP1B1):c.1421A>C (p.Glu474Ala) rs1272381382
NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro) rs1682416281
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.4(CYP1B1):c.1590T>G (p.Asp530Glu)
NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg) rs901961745
NM_000104.4(CYP1B1):c.1600C>A (p.Gln534Lys) rs1216032234
NM_000104.4(CYP1B1):c.20C>G (p.Pro7Arg)
NM_000104.4(CYP1B1):c.371G>A (p.Arg124His) rs1177366364
NM_000104.4(CYP1B1):c.439G>C (p.Ala147Pro) rs1682502726
NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr) rs72549384
NM_000104.4(CYP1B1):c.694G>A (p.Gly232Arg)
NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys) rs1682493984
NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser) rs1381317977
NM_000104.4(CYP1B1):c.908A>C (p.Lys303Thr) rs1682488839
NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) rs72549382
NM_000428.3(LTBP2):c.*1029G>A rs2086890935
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*1393T>C rs2086887490
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1777A>G rs1419112516
NM_000428.3(LTBP2):c.*2236C>T rs753803515
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*2419C>T rs1595233261
NM_000428.3(LTBP2):c.*316C>G rs957387729
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*384G>C rs2086896920
NM_000428.3(LTBP2):c.*397C>A rs2086896748
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*742C>T rs913148674
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser) rs987914104
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg) rs765689019
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2388+8C>G rs201838800
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) rs200532538
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp) rs2087004341
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg) rs578210394
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu) rs773510546
NM_000428.3(LTBP2):c.4978G>T (p.Gly1660Trp) rs147223742
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) rs372981316
NM_000428.3(LTBP2):c.804G>A (p.Pro268=) rs139052892
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_000459.5(TEK):c.2062A>G (p.Lys688Glu)
NM_000459.5(TEK):c.3263T>C (p.Ile1088Thr) rs748930375
NM_000459.5(TEK):c.32G>A (p.Gly11Glu) rs2131018026
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099

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