ClinVar Miner

List of variants in gene LDB3 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_007078.2(LDB3):c.-291T>C rs2803555 0.78910
NM_007078.2(LDB3):c.-373A>T rs2675692 0.77698
NM_007078.3(LDB3):c.322-197C>G rs2248643 0.74283
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_007078.3(LDB3):c.689+149A>G rs56165849 0.49964
NM_007078.3(LDB3):c.1231+240G>A rs10887651 0.45598
NM_007078.3(LDB3):c.2095-235G>C rs7899337 0.37498
NM_007078.3(LDB3):c.689+148C>T rs55815121 0.34701
NM_007078.3(LDB3):c.1086-75G>T rs3740347 0.29482
NM_007078.3(LDB3):c.322-161A>G rs2675686 0.23672
NM_007078.3(LDB3):c.1676+250G>A rs7910307 0.23380
NM_007078.3(LDB3):c.1978+175G>A rs11202138 0.23379
NM_007078.3(LDB3):c.2094+94del rs34647099 0.22482
NM_007078.3(LDB3):c.2095-282G>A rs7899324 0.21085
NM_007078.3(LDB3):c.93+177C>T rs3740342 0.18747
NM_007078.3(LDB3):c.690-228del rs11312118 0.13812
NM_007078.3(LDB3):c.859+47G>C rs3740346 0.13647
NM_007078.3(LDB3):c.1085+234G>A rs17106959 0.09681
NM_007078.3(LDB3):c.1979-174T>G rs7092188 0.07338
NM_007078.3(LDB3):c.245+156A>C rs3740344 0.06857
NM_007078.3(LDB3):c.2095-295C>G rs59412880 0.06697
NM_007078.3(LDB3):c.321+104G>A rs45598635 0.05701
NM_007078.3(LDB3):c.1231+30C>G rs11597201 0.05370
NM_007078.3(LDB3):c.897-304A>C rs17106956 0.05344
NM_007078.3(LDB3):c.245+278T>C rs60835566 0.05176
NM_007078.3(LDB3):c.94-294T>C rs112790021 0.04915
NM_007078.3(LDB3):c.94-124G>A rs12254069 0.04518
NM_007078.3(LDB3):c.321+248G>A rs45617137 0.03753
NM_007078.3(LDB3):c.1978+284G>T rs12219069 0.03659
NM_007078.3(LDB3):c.1232-278G>A rs12218053 0.03646
NM_007078.3(LDB3):c.321+192G>C rs45519132 0.03516
NM_007078.3(LDB3):c.322-156T>C rs117975031 0.03485
NM_007078.2(LDB3):c.-413A>G rs34073498 0.03113
NM_007078.3(LDB3):c.246-144A>G rs116206291 0.02710
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_007078.3(LDB3):c.1978+198A>G rs117918530 0.02468
NM_007078.3(LDB3):c.322-279dup rs140722741 0.02275
NM_007078.3(LDB3):c.1232-100G>A rs114915313 0.02068
NM_007078.3(LDB3):c.322-290C>G rs11813013 0.02011
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_007078.3(LDB3):c.246-162C>T rs75738068 0.01817
NM_007078.2(LDB3):c.-402G>A rs35777670 0.01718
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007078.3(LDB3):c.1677-197G>A rs7090715 0.01668
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_007078.3(LDB3):c.896+45G>A rs11202128 0.01502
NM_007078.3(LDB3):c.1676+245A>C rs116015322 0.01286
NM_007078.3(LDB3):c.-36A>G rs2803557 0.01226
NM_007078.3(LDB3):c.897-298A>C rs117230487 0.01089
NM_007078.3(LDB3):c.1231+24G>A rs45477098 0.00986
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_007078.3(LDB3):c.322-305G>A rs11596380 0.00913
NM_007078.3(LDB3):c.2094+162G>A rs112207292 0.00857
NM_007078.3(LDB3):c.689+323T>C rs145371401 0.00726
NM_007078.3(LDB3):c.897-6907A>G rs79068721 0.00651
NM_007078.3(LDB3):c.859+179G>A rs77359721 0.00648
NM_007078.3(LDB3):c.1979-310G>A rs114139889 0.00611
NM_007078.3(LDB3):c.897-164C>A rs11815273 0.00609
NM_007078.3(LDB3):c.1231+209G>A rs143431229 0.00530
NM_007078.3(LDB3):c.1232-97_1232-96insG rs537326671 0.00527
NM_007078.3(LDB3):c.1676+267C>T rs184741262 0.00526
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221 0.00450
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_007078.3(LDB3):c.1857+32_1857+33del rs149127817 0.00225
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00048
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.732C>T (p.Pro244=) rs144509718 0.00034
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_007078.3(LDB3):c.1911G>A (p.Ala637=) rs150710377 0.00020
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035 0.00017
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln) rs143996848 0.00016
NM_007078.3(LDB3):c.492G>T (p.Pro164=) rs368407147 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_007078.3(LDB3):c.897-16G>C rs45513100 0.00011
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141 0.00008
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser) rs750941511 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_007078.3(LDB3):c.1858-11C>A rs369454227 0.00007
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153 0.00006
NM_007078.3(LDB3):c.1254G>A (p.Pro418=) rs145942370 0.00006
NM_007078.3(LDB3):c.1521C>T (p.Thr507=) rs200838004 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln) rs143311349 0.00006
NM_007078.3(LDB3):c.543C>T (p.Leu181=) rs148324530 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp) rs369398522 0.00006
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser) rs771007816 0.00005
NM_007078.3(LDB3):c.1728C>T (p.Thr576=) rs749988944 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_007078.3(LDB3):c.2073C>T (p.His691=) rs45486293 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met) rs375798002 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser) rs372583830 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.318G>A (p.Gln106=) rs760617777 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007078.3(LDB3):c.867C>T (p.Asp289=) rs397517227 0.00004
NM_007078.3(LDB3):c.93+12C>T rs746751581 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser) rs771037817 0.00003
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln) rs201968826 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_007078.3(LDB3):c.1963C>A (p.Pro655Thr) rs745444678 0.00003
NM_007078.3(LDB3):c.378G>A (p.Ala126=) rs149872184 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn) rs201773873 0.00003
NM_007078.3(LDB3):c.66C>A (p.Asp22Glu) rs1261515174 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.900C>A (p.Thr300=) rs760071118 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_001368067.1(LDB3):c.788G>A (p.Arg263His) rs780518038 0.00002
NM_007078.3(LDB3):c.*65G>A rs777850765 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp) rs773327911 0.00002
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) rs374426474 0.00002
NM_007078.3(LDB3):c.1657C>A (p.His553Asn) rs1488010574 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.1824G>A (p.Pro608=) rs748428531 0.00002
NM_007078.3(LDB3):c.2124G>A (p.Pro708=) rs759812655 0.00002
NM_007078.3(LDB3):c.246-8T>A rs750671538 0.00002
NM_007078.3(LDB3):c.253C>T (p.Arg85Cys) rs780200228 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.468C>T (p.Ala156=) rs374233873 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007078.3(LDB3):c.646A>T (p.Met216Leu) rs765199175 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.669G>A (p.Ser223=) rs778089838 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_007078.3(LDB3):c.-24+5G>C rs759847996 0.00001
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 0.00001
NM_007078.3(LDB3):c.1120G>A (p.Ala374Thr) rs762701610 0.00001
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr) rs794729061 0.00001
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser) rs373546361 0.00001
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr) rs748672176 0.00001
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn) rs766405051 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn) rs767914340 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) rs199749907 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.2026G>A (p.Val676Met) rs549994359 0.00001
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp) rs1230240655 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.246-4A>G rs370264195 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.272C>T (p.Thr91Met) rs769237367 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.322-20C>T rs199536065 0.00001
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly) rs199801766 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.519C>G (p.Ser173Arg) rs1845139039 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala) rs753314972 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys) rs1323002546 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys) rs141116920 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.859A>G (p.Met287Val) rs1353972543 0.00001
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys) rs1266510625 0.00001
NM_007078.3(LDB3):c.897-11C>G rs766463668 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile) rs367882377 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_001368063.1(LDB3):c.-35G>T
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys) rs868365512
NM_001368067.1(LDB3):c.781_783delinsTT (p.Ser261fs)
NM_001368067.1(LDB3):c.785C>T (p.Pro262Leu)
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly) rs121908335
NM_007078.2(LDB3):c.-282G>T rs11812601
NM_007078.3(LDB3):c.*13G>T rs397517207
NM_007078.3(LDB3):c.-48G>A rs2803556
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1098T>G (p.Ser366=) rs2132465936
NM_007078.3(LDB3):c.1109C>T (p.Pro370Leu) rs794729060
NM_007078.3(LDB3):c.1157dup (p.Ala389fs) rs2132466099
NM_007078.3(LDB3):c.1160G>T (p.Gly387Val)
NM_007078.3(LDB3):c.1166_1167inv (p.Ala389Gly)
NM_007078.3(LDB3):c.1167C>T (p.Ala389=) rs768844187
NM_007078.3(LDB3):c.1232-12del rs752301693
NM_007078.3(LDB3):c.1232-12dup rs752301693
NM_007078.3(LDB3):c.1232-96A>C rs59439194
NM_007078.3(LDB3):c.1232-96A>G rs59439194
NM_007078.3(LDB3):c.1235C>G (p.Pro412Arg) rs1416924382
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu) rs141870580
NM_007078.3(LDB3):c.1274G>A (p.Ser425Asn)
NM_007078.3(LDB3):c.1287C>A (p.Tyr429Ter)
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile) rs746183666
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1315C>G (p.Pro439Ala)
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.1318T>C (p.Ser440Pro) rs868594949
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu) rs1554863327
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
NM_007078.3(LDB3):c.133C>T (p.Gln45Ter) rs1057524744
NM_007078.3(LDB3):c.1348G>A (p.Val450Ile)
NM_007078.3(LDB3):c.1399C>A (p.Pro467Thr)
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.3(LDB3):c.145G>A (p.Val49Met) rs200645175
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn) rs748433510
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1573G>C (p.Gly525Arg) rs794729063
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn) rs2132360328
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs) rs1846890164
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1645C>T (p.Pro549Ser)
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser) rs751482077
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln) rs751506530
NM_007078.3(LDB3):c.1748C>T (p.Ser583Phe) rs1263835922
NM_007078.3(LDB3):c.1752G>C (p.Leu584=) rs1589676711
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1779G>C (p.Gln593His) rs1291914478
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_007078.3(LDB3):c.1815C>A (p.Phe605Leu)
NM_007078.3(LDB3):c.1824G>T (p.Pro608=)
NM_007078.3(LDB3):c.184C>T (p.His62Tyr) rs779234633
NM_007078.3(LDB3):c.1938C>G (p.Ser646Arg)
NM_007078.3(LDB3):c.1978+2_1978+5del rs1554864768
NM_007078.3(LDB3):c.200A>G (p.Asn67Ser) rs727504500
NM_007078.3(LDB3):c.2027del (p.Val676fs) rs2132503498
NM_007078.3(LDB3):c.2030A>C (p.Glu677Ala)
NM_007078.3(LDB3):c.2059G>T (p.Gly687Cys) rs2132503599
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser) rs45577134
NM_007078.3(LDB3):c.2094+148G>A rs17106978
NM_007078.3(LDB3):c.2094+1G>A rs2132503675
NM_007078.3(LDB3):c.2095-1G>A
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys) rs772249948
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=) rs752415111
NM_007078.3(LDB3):c.2152T>G (p.Cys718Gly) rs2132517988
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) rs397517220
NM_007078.3(LDB3):c.2156A>C (p.Lys719Thr)
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_007078.3(LDB3):c.280C>T (p.Pro94Ser)
NM_007078.3(LDB3):c.293C>T (p.Thr98Ile) rs1589619284
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
NM_007078.3(LDB3):c.321+1G>A
NM_007078.3(LDB3):c.322-100G>A rs150030975
NM_007078.3(LDB3):c.322-1G>A rs794729059
NM_007078.3(LDB3):c.343G>C (p.Gly115Arg) rs397517222
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
NM_007078.3(LDB3):c.411G>A (p.Glu137=) rs1442836813
NM_007078.3(LDB3):c.411G>T (p.Glu137Asp)
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.520C>T (p.Pro174Ser) rs749215979
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.537C>G (p.Asp179Glu)
NM_007078.3(LDB3):c.558G>A (p.Leu186=)
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.59del (p.Gly20fs) rs1308589918
NM_007078.3(LDB3):c.686G>T (p.Gly229Val) rs1131691665
NM_007078.3(LDB3):c.690-17CT[3] rs544039308
NM_007078.3(LDB3):c.733G>T (p.Val245Phe) rs573061464
NM_007078.3(LDB3):c.762C>A (p.Asn254Lys)
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007078.3(LDB3):c.784G>C (p.Glu262Gln)
NM_007078.3(LDB3):c.79C>T (p.Leu27Phe) rs1554844343
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_007078.3(LDB3):c.843G>A (p.Met281Ile)
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.894A>G (p.Ser298=)
NM_007078.3(LDB3):c.896+2T>C rs2132418124
NM_007078.3(LDB3):c.896+6669TC[10] rs71019410
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_007078.3(LDB3):c.896+6694del rs796095449
NM_007078.3(LDB3):c.897-11C>T rs766463668
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro) rs573547650
NM_007078.3(LDB3):c.93+165C>A rs12259201
NM_007078.3(LDB3):c.93+253CAGG[8] rs71016147
NM_007078.3(LDB3):c.93+272_93+273insGAGG rs141315074
NM_007078.3(LDB3):c.94-119G>A rs4468255
NM_007078.3(LDB3):c.94-119G>C rs4468255
NM_007078.3(LDB3):c.94-20C>T rs779928559

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