ClinVar Miner

List of variants in gene LRP4 reported as likely benign for congenital myasthenic syndrome 17

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 507
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_002334.4(LRP4):c.1915+6C>T rs184555624 0.00175
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) rs147688807 0.00063
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_002334.4(LRP4):c.3004+19G>T rs376749778 0.00031
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) rs144710408 0.00024
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) rs140010759 0.00018
NM_002334.4(LRP4):c.1310-9G>C rs200509094 0.00017
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.636C>T (p.Gly212=) rs17848239 0.00015
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4584-5C>T rs183295145 0.00014
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_002334.4(LRP4):c.2763C>T (p.Asp921=) rs532977473 0.00011
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=) rs372105627 0.00011
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.3537-13C>A rs752687926 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) rs376909913 0.00009
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_002334.4(LRP4):c.660A>G (p.Ser220=) rs200129866 0.00007
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) rs200097836 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1584C>T (p.Thr528=) rs574108233 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) rs75923112 0.00006
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) rs201016203 0.00006
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) rs779526693 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) rs372569948 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.612C>T (p.Ile204=) rs757902891 0.00006
NM_002334.4(LRP4):c.1437C>T (p.Arg479=) rs141108617 0.00005
NM_002334.4(LRP4):c.1779C>T (p.Ala593=) rs202063944 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) rs779045515 0.00005
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=) rs752801557 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) rs556905132 0.00004
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) rs750627555 0.00004
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00004
NM_002334.4(LRP4):c.1668C>T (p.Pro556=) rs766741394 0.00004
NM_002334.4(LRP4):c.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.2093-16T>C rs751168409 0.00004
NM_002334.4(LRP4):c.2202C>T (p.His734=) rs757999800 0.00004
NM_002334.4(LRP4):c.2358C>T (p.His786=) rs371677748 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.2766C>T (p.Ala922=) rs773599397 0.00004
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=) rs768821263 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.4665T>C (p.His1555=) rs145206396 0.00004
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=) rs780329570 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.53-7C>T rs745407997 0.00004
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=) rs751494811 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1368C>T (p.His456=) rs570223328 0.00003
NM_002334.4(LRP4):c.3136+10A>G rs377543577 0.00003
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=) rs570258125 0.00003
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=) rs377557349 0.00003
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) rs751449110 0.00003
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) rs952249452 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.501C>T (p.Cys167=) rs369739623 0.00003
NM_002334.4(LRP4):c.504C>T (p.Asp168=) rs749048211 0.00003
NM_002334.4(LRP4):c.5385+13A>G rs370288647 0.00003
NM_002334.4(LRP4):c.768T>C (p.Cys256=) rs774343834 0.00003
NM_002334.4(LRP4):c.105A>C (p.Ala35=) rs766633369 0.00002
NM_002334.4(LRP4):c.1200C>T (p.Ala400=) rs755019127 0.00002
NM_002334.4(LRP4):c.1209G>A (p.Gly403=) rs751742961 0.00002
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) rs373523952 0.00002
NM_002334.4(LRP4):c.1731C>G (p.Pro577=) rs762761020 0.00002
NM_002334.4(LRP4):c.1824C>T (p.Ala608=) rs368577516 0.00002
NM_002334.4(LRP4):c.228T>C (p.Phe76=) rs146007685 0.00002
NM_002334.4(LRP4):c.2425-20C>T rs760531886 0.00002
NM_002334.4(LRP4):c.2481C>G (p.Thr827=) rs759325895 0.00002
NM_002334.4(LRP4):c.2910C>T (p.Ser970=) rs754936858 0.00002
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) rs534064794 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=) rs775166531 0.00002
NM_002334.4(LRP4):c.471C>T (p.Asp157=) rs765171137 0.00002
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=) rs369034386 0.00002
NM_002334.4(LRP4):c.5087+14A>G rs376251083 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.548-20C>A rs1267038625 0.00002
NM_002334.4(LRP4):c.585G>A (p.Glu195=) rs147714102 0.00002
NM_002334.4(LRP4):c.923-16C>A rs756847264 0.00002
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=) rs1941501832 0.00001
NM_002334.4(LRP4):c.1233C>T (p.Asn411=) rs1409525735 0.00001
NM_002334.4(LRP4):c.1251A>G (p.Gln417=) rs753671990 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) rs748651620 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1599G>A (p.Ser533=) rs745607132 0.00001
NM_002334.4(LRP4):c.1761T>C (p.Ser587=) rs1191198188 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.186T>C (p.Asp62=) rs1941691871 0.00001
NM_002334.4(LRP4):c.1915+10T>C rs566481615 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2118C>T (p.Asn706=) rs762032159 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2424+12C>T rs765593279 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2835C>T (p.Leu945=) rs201362411 0.00001
NM_002334.4(LRP4):c.2859C>T (p.Leu953=) rs1368908778 0.00001
NM_002334.4(LRP4):c.3005-17C>T rs778370608 0.00001
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=) rs537403005 0.00001
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=) rs1000744964 0.00001
NM_002334.4(LRP4):c.3137-8C>T rs1941047135 0.00001
NM_002334.4(LRP4):c.317-11T>C rs776234303 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.3277+11C>T rs761158182 0.00001
NM_002334.4(LRP4):c.3365-7C>T rs1565783851 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=) rs755263623 0.00001
NM_002334.4(LRP4):c.3699+10G>A rs770541308 0.00001
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=) rs200028319 0.00001
NM_002334.4(LRP4):c.390T>C (p.Asp130=) rs140186161 0.00001
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=) rs1424152195 0.00001
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=) rs771308040 0.00001
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=) rs1246562304 0.00001
NM_002334.4(LRP4):c.417C>T (p.Ser139=) rs760201117 0.00001
NM_002334.4(LRP4):c.430+7G>A rs1261702662 0.00001
NM_002334.4(LRP4):c.441G>A (p.Lys147=) rs986524567 0.00001
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=) rs766956711 0.00001
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=) rs143849188 0.00001
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=) rs762976165 0.00001
NM_002334.4(LRP4):c.5088-19A>C rs1338147762 0.00001
NM_002334.4(LRP4):c.5088-5C>T rs994961184 0.00001
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=) rs777935842 0.00001
NM_002334.4(LRP4):c.5156-15C>A rs1204328295 0.00001
NM_002334.4(LRP4):c.5247C>T (p.His1749=) rs138596351 0.00001
NM_002334.4(LRP4):c.531C>T (p.Ser177=) rs751226124 0.00001
NM_002334.4(LRP4):c.5346C>G (p.Pro1782=) rs759701000 0.00001
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=) rs376540994 0.00001
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=) rs772706817 0.00001
NM_002334.4(LRP4):c.548-18C>A rs779705585 0.00001
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=) rs767372541 0.00001
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=) rs762431184 0.00001
NM_002334.4(LRP4):c.724C>T (p.Leu242=) rs1037889784 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.801C>T (p.Thr267=) rs746028762 0.00001
NM_002334.4(LRP4):c.894C>T (p.Asn298=) rs1592542950 0.00001
NM_002334.4(LRP4):c.922+12C>T rs1297911489 0.00001
NM_002334.4(LRP4):c.922+19C>G rs749318305 0.00001
NM_002334.4(LRP4):c.923-19T>C rs528895748 0.00001
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
NM_002334.4(LRP4):c.1029A>G (p.Glu343=) rs761739869
NM_002334.4(LRP4):c.1048+13A>G
NM_002334.4(LRP4):c.1049-10G>C rs2134853583
NM_002334.4(LRP4):c.1049-20C>T
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
NM_002334.4(LRP4):c.1140C>T (p.Cys380=)
NM_002334.4(LRP4):c.1146A>G (p.Thr382=) rs2134853133
NM_002334.4(LRP4):c.1173C>T (p.His391=)
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
NM_002334.4(LRP4):c.1184-18C>T
NM_002334.4(LRP4):c.1184-5C>T
NM_002334.4(LRP4):c.1200C>G (p.Ala400=)
NM_002334.4(LRP4):c.1218C>T (p.Ser406=) rs2134851406
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
NM_002334.4(LRP4):c.1306C>T (p.Leu436=) rs368827270
NM_002334.4(LRP4):c.1309+15C>T
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
NM_002334.4(LRP4):c.1410C>T (p.Ala470=)
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
NM_002334.4(LRP4):c.1540+13G>A
NM_002334.4(LRP4):c.1540+17C>A
NM_002334.4(LRP4):c.1540+18A>G
NM_002334.4(LRP4):c.1540+9C>T
NM_002334.4(LRP4):c.1541-16T>C
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) rs1592539185
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
NM_002334.4(LRP4):c.1644G>A (p.Leu548=)
NM_002334.4(LRP4):c.1689C>T (p.Pro563=)
NM_002334.4(LRP4):c.1697+16G>C
NM_002334.4(LRP4):c.1697+19T>C
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
NM_002334.4(LRP4):c.1863C>A (p.Val621=)
NM_002334.4(LRP4):c.1866C>T (p.Ile622=)
NM_002334.4(LRP4):c.1915+10T>A
NM_002334.4(LRP4):c.1915+17A>G
NM_002334.4(LRP4):c.1915+8C>A
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
NM_002334.4(LRP4):c.1971C>T (p.Asp657=)
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
NM_002334.4(LRP4):c.199+12C>T
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.200-26TTTTC[4]
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
NM_002334.4(LRP4):c.2028C>T (p.Ile676=) rs1941385384
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
NM_002334.4(LRP4):c.2073C>T (p.His691=)
NM_002334.4(LRP4):c.2092+12C>T
NM_002334.4(LRP4):c.2092+18G>A
NM_002334.4(LRP4):c.2092+19G>C
NM_002334.4(LRP4):c.2092+20G>C
NM_002334.4(LRP4):c.2093-12C>A
NM_002334.4(LRP4):c.2093-17C>T
NM_002334.4(LRP4):c.2093-19C>T rs1181290875
NM_002334.4(LRP4):c.2130G>A (p.Thr710=) rs199674492
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
NM_002334.4(LRP4):c.2175C>T (p.Pro725=) rs369705661
NM_002334.4(LRP4):c.2178T>G (p.Thr726=) rs1941371842
NM_002334.4(LRP4):c.2211C>T (p.Ala737=)
NM_002334.4(LRP4):c.2216-18C>T
NM_002334.4(LRP4):c.2216-20C>A
NM_002334.4(LRP4):c.225C>T (p.Asp75=) rs1023732809
NM_002334.4(LRP4):c.2277A>G (p.Thr759=)
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
NM_002334.4(LRP4):c.2388C>T (p.Thr796=)
NM_002334.4(LRP4):c.2424+15G>T
NM_002334.4(LRP4):c.2424+18G>T
NM_002334.4(LRP4):c.2425-13G>A
NM_002334.4(LRP4):c.2425-19A>G rs2134827879
NM_002334.4(LRP4):c.2425-6G>T rs1592532832
NM_002334.4(LRP4):c.2442T>C (p.Ser814=) rs2134827694
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=) rs2134827587
NM_002334.4(LRP4):c.2506+15G>A
NM_002334.4(LRP4):c.2506+8T>A
NM_002334.4(LRP4):c.2506+8T>C
NM_002334.4(LRP4):c.2507-11C>T
NM_002334.4(LRP4):c.2507-4A>G
NM_002334.4(LRP4):c.2507-7T>C
NM_002334.4(LRP4):c.2574T>G (p.Leu858=)
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
NM_002334.4(LRP4):c.2612+12C>T
NM_002334.4(LRP4):c.2612+15C>T rs926960884
NM_002334.4(LRP4):c.2613-11C>A
NM_002334.4(LRP4):c.2613-11_2613-7dup
NM_002334.4(LRP4):c.2640G>A (p.Ala880=)
NM_002334.4(LRP4):c.2733T>C (p.Asp911=)
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
NM_002334.4(LRP4):c.2814+10del rs534937304
NM_002334.4(LRP4):c.2814+16A>C
NM_002334.4(LRP4):c.2814+17_2814+39del
NM_002334.4(LRP4):c.2814+7G>A
NM_002334.4(LRP4):c.2814+9G>A
NM_002334.4(LRP4):c.2815-16G>A rs1941096408
NM_002334.4(LRP4):c.2815-20_2815-17dup
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
NM_002334.4(LRP4):c.2835C>G (p.Leu945=) rs201362411
NM_002334.4(LRP4):c.2850G>A (p.Gly950=)
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.2979T>C (p.His993=)
NM_002334.4(LRP4):c.3004+13T>C
NM_002334.4(LRP4):c.3004+14G>C
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3004+19G>A
NM_002334.4(LRP4):c.3005-12C>T
NM_002334.4(LRP4):c.3005-12_3005-10del
NM_002334.4(LRP4):c.3005-18C>T
NM_002334.4(LRP4):c.3005-4C>T
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
NM_002334.4(LRP4):c.3045C>T (p.His1015=) rs2134807034
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
NM_002334.4(LRP4):c.3136+16A>G
NM_002334.4(LRP4):c.3137-13C>T
NM_002334.4(LRP4):c.3137-15del rs2134802550
NM_002334.4(LRP4):c.3137-4G>A
NM_002334.4(LRP4):c.3137-4G>C
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=) rs2134802462
NM_002334.4(LRP4):c.317-12C>G
NM_002334.4(LRP4):c.317-19G>A
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
NM_002334.4(LRP4):c.3222A>G (p.Val1074=)
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
NM_002334.4(LRP4):c.3231C>T (p.Asn1077=)
NM_002334.4(LRP4):c.3277+13C>T
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3330G>A (p.Leu1110=)
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
NM_002334.4(LRP4):c.3345T>C (p.His1115=)
NM_002334.4(LRP4):c.3364+11C>T
NM_002334.4(LRP4):c.3364+17G>T
NM_002334.4(LRP4):c.3364+7C>T
NM_002334.4(LRP4):c.3365-18T>A
NM_002334.4(LRP4):c.3365-6C>G
NM_002334.4(LRP4):c.3365-9T>C rs1592524683
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=) rs2134800312
NM_002334.4(LRP4):c.3465G>A (p.Gly1155=)
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA rs2134799662
NM_002334.4(LRP4):c.3536+18C>T
NM_002334.4(LRP4):c.3561G>A (p.Gly1187=)
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
NM_002334.4(LRP4):c.3699+13T>C
NM_002334.4(LRP4):c.3699+19C>T
NM_002334.4(LRP4):c.3699+8C>T
NM_002334.4(LRP4):c.3699+9C>A
NM_002334.4(LRP4):c.3699+9C>T
NM_002334.4(LRP4):c.3700-10T>C rs975882066
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=) rs2134797059
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
NM_002334.4(LRP4):c.3926-17G>A
NM_002334.4(LRP4):c.3926-18T>A
NM_002334.4(LRP4):c.3926-5A>G
NM_002334.4(LRP4):c.3981G>A (p.Arg1327=)
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=) rs2134794190
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=) rs2134794079
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=) rs371098163
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=) rs1181126034
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
NM_002334.4(LRP4):c.4229+11C>T
NM_002334.4(LRP4):c.4229+15G>A
NM_002334.4(LRP4):c.4229+20C>G
NM_002334.4(LRP4):c.4230-10T>C rs1940930151
NM_002334.4(LRP4):c.4230-12G>A
NM_002334.4(LRP4):c.4230-15T>G
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=) rs1940926502
NM_002334.4(LRP4):c.430+16G>A
NM_002334.4(LRP4):c.4305G>A (p.Val1435=)
NM_002334.4(LRP4):c.431-16C>G
NM_002334.4(LRP4):c.431-3del rs562071882
NM_002334.4(LRP4):c.431-8C>G
NM_002334.4(LRP4):c.431-9T>A rs1941620373
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
NM_002334.4(LRP4):c.432C>T (p.Asp144=)
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
NM_002334.4(LRP4):c.4446G>A (p.Lys1482=)
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
NM_002334.4(LRP4):c.4557C>T (p.Gly1519=)
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
NM_002334.4(LRP4):c.4578C>T (p.Thr1526=)
NM_002334.4(LRP4):c.4583+15T>A
NM_002334.4(LRP4):c.4584-14_4584-10del rs748959880
NM_002334.4(LRP4):c.4584-16_4584-15del rs768340393
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
NM_002334.4(LRP4):c.4693-11C>T rs1409382852
NM_002334.4(LRP4):c.4693-12C>G
NM_002334.4(LRP4):c.4693-12C>T
NM_002334.4(LRP4):c.4693-15T>G
NM_002334.4(LRP4):c.4693-16T>C rs2134778241
NM_002334.4(LRP4):c.4693-20G>C
NM_002334.4(LRP4):c.4699A>C (p.Arg1567=)
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=) rs200270681
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
NM_002334.4(LRP4):c.474A>G (p.Gly158=)
NM_002334.4(LRP4):c.4794A>G (p.Glu1598=)
NM_002334.4(LRP4):c.4837+8C>G rs1243774066
NM_002334.4(LRP4):c.4838-8G>A
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=) rs2134776744
NM_002334.4(LRP4):c.489G>A (p.Glu163=) rs1941618309
NM_002334.4(LRP4):c.4952-10T>C
NM_002334.4(LRP4):c.4952-17T>C
NM_002334.4(LRP4):c.4952-18A>G
NM_002334.4(LRP4):c.4952-19A>G rs772798728
NM_002334.4(LRP4):c.4952-20C>A
NM_002334.4(LRP4):c.4962G>A (p.Leu1654=)
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=) rs2134774940
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
NM_002334.4(LRP4):c.507T>A (p.Gly169=) rs2134863376
NM_002334.4(LRP4):c.5087+12C>T
NM_002334.4(LRP4):c.5087+13A>G
NM_002334.4(LRP4):c.5087+14A>T rs376251083
NM_002334.4(LRP4):c.5088-17T>A
NM_002334.4(LRP4):c.5088-6C>T
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
NM_002334.4(LRP4):c.5155+16C>T
NM_002334.4(LRP4):c.5155+20C>G
NM_002334.4(LRP4):c.5156-11A>G
NM_002334.4(LRP4):c.5156-20T>A
NM_002334.4(LRP4):c.5243+17T>C
NM_002334.4(LRP4):c.5244-4A>T
NM_002334.4(LRP4):c.5244-6C>T
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=) rs2134760244
NM_002334.4(LRP4):c.53-12C>G
NM_002334.4(LRP4):c.53-15T>C
NM_002334.4(LRP4):c.53-6G>A
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) rs750830696
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
NM_002334.4(LRP4):c.5386-4C>G
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
NM_002334.4(LRP4):c.547+14G>A
NM_002334.4(LRP4):c.547+14G>C rs1243797516
NM_002334.4(LRP4):c.548-19A>T
NM_002334.4(LRP4):c.548-4C>T
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=) rs911721294
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=) rs2134750971
NM_002334.4(LRP4):c.54C>T (p.Gly18=) rs372935440
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
NM_002334.4(LRP4):c.5625C>T (p.Ser1875=)
NM_002334.4(LRP4):c.564G>A (p.Ala188=)
NM_002334.4(LRP4):c.5715C>G (p.Val1905=) rs2134750322
NM_002334.4(LRP4):c.591G>A (p.Gln197=) rs1199299804
NM_002334.4(LRP4):c.597C>T (p.Ala199=)
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
NM_002334.4(LRP4):c.633T>C (p.Asp211=)
NM_002334.4(LRP4):c.677-13T>C
NM_002334.4(LRP4):c.677-6C>T
NM_002334.4(LRP4):c.677-7T>G rs1244833731
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
NM_002334.4(LRP4):c.69C>T (p.Pro23=) rs370359994
NM_002334.4(LRP4):c.708C>T (p.Phe236=) rs2134861393
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
NM_002334.4(LRP4):c.720T>C (p.Ser240=)
NM_002334.4(LRP4):c.738A>C (p.Ala246=)
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
NM_002334.4(LRP4):c.774C>T (p.Asp258=) rs2134861192
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
NM_002334.4(LRP4):c.796+18A>T
NM_002334.4(LRP4):c.796+20T>C
NM_002334.4(LRP4):c.796+7G>A
NM_002334.4(LRP4):c.798C>T (p.Thr266=) rs2134856058
NM_002334.4(LRP4):c.813G>T (p.Thr271=)
NM_002334.4(LRP4):c.834C>T (p.His278=)
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
NM_002334.4(LRP4):c.922+13G>C
NM_002334.4(LRP4):c.923-11C>T
NM_002334.4(LRP4):c.923-14del
NM_002334.4(LRP4):c.923-6C>G
NM_002334.4(LRP4):c.923-8C>T
NM_002334.4(LRP4):c.966G>A (p.Gly322=)
NM_002334.4(LRP4):c.996C>T (p.Asn332=)

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