ClinVar Miner

List of variants in gene LTBP3 reported as uncertain significance for Brachyolmia-amelogenesis imperfecta syndrome

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Gene type:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.457G>A (p.Gly153Ser) rs373381192 0.00054
NM_001130144.3(LTBP3):c.485G>C (p.Gly162Ala) rs371177340 0.00038
NM_001130144.3(LTBP3):c.1100A>G (p.His367Arg) rs142692132 0.00025
NM_001130144.3(LTBP3):c.864G>T (p.Pro288=) rs201987018 0.00024
NM_001130144.3(LTBP3):c.764C>A (p.Pro255His) rs200322257 0.00021
NM_001130144.3(LTBP3):c.2914C>T (p.Pro972Ser) rs148248053 0.00019
NM_001130144.3(LTBP3):c.89T>G (p.Leu30Arg) rs966781991 0.00018
NM_001130144.3(LTBP3):c.1158T>A (p.Ser386Arg) rs200733908 0.00017
NM_001130144.3(LTBP3):c.3281C>T (p.Pro1094Leu) rs773279346 0.00017
NM_001130144.3(LTBP3):c.476G>A (p.Ser159Asn) rs766148760 0.00016
NM_001130144.3(LTBP3):c.2380G>A (p.Val794Met) rs144309426 0.00014
NM_001130144.3(LTBP3):c.3841C>G (p.Arg1281Gly) rs766976554 0.00014
NM_001130144.3(LTBP3):c.3302C>T (p.Pro1101Leu) rs959390214 0.00013
NM_001130144.3(LTBP3):c.751G>A (p.Glu251Lys) rs752311785 0.00013
NM_001130144.3(LTBP3):c.3438C>T (p.Gly1146=) rs766787396 0.00012
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001130144.3(LTBP3):c.2621C>T (p.Pro874Leu) rs370306373 0.00010
NM_001130144.3(LTBP3):c.3566C>T (p.Ser1189Leu) rs368031065 0.00010
NM_001130144.3(LTBP3):c.2919C>G (p.Asp973Glu) rs145041278 0.00009
NM_001130144.3(LTBP3):c.443G>A (p.Gly148Asp) rs750578456 0.00009
NM_001130144.3(LTBP3):c.1183A>G (p.Ile395Val) rs374667397 0.00008
NM_001130144.3(LTBP3):c.131G>C (p.Gly44Ala) rs1261373070 0.00008
NM_001130144.3(LTBP3):c.3700G>A (p.Gly1234Ser) rs372367914 0.00008
NM_001130144.3(LTBP3):c.2473G>A (p.Glu825Lys) rs147143573 0.00007
NM_001130144.3(LTBP3):c.1481C>T (p.Pro494Leu) rs368007426 0.00006
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala) rs145060640 0.00006
NM_001130144.3(LTBP3):c.3546G>C (p.Ala1182=) rs569342451 0.00006
NM_001130144.3(LTBP3):c.3685G>A (p.Val1229Met) rs755974556 0.00006
NM_001130144.3(LTBP3):c.3460G>A (p.Gly1154Arg) rs558144911 0.00005
NM_001130144.3(LTBP3):c.1265G>A (p.Arg422His) rs143751614 0.00004
NM_001130144.3(LTBP3):c.1312G>A (p.Ala438Thr) rs368676768 0.00004
NM_001130144.3(LTBP3):c.1610G>A (p.Arg537Gln) rs779937464 0.00004
NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr) rs570630736 0.00004
NM_001130144.3(LTBP3):c.2777C>T (p.Thr926Ile) rs199511147 0.00004
NM_001130144.3(LTBP3):c.1620C>T (p.Pro540=) rs200693646 0.00003
NM_001130144.3(LTBP3):c.1831C>T (p.His611Tyr) rs752399244 0.00003
NM_001130144.3(LTBP3):c.3401G>A (p.Arg1134Gln) rs939910538 0.00003
NM_001130144.3(LTBP3):c.3584C>T (p.Ser1195Phe) rs751218306 0.00003
NM_001130144.3(LTBP3):c.3875G>A (p.Arg1292His) rs1282350856 0.00003
NM_001130144.3(LTBP3):c.1090G>A (p.Val364Met) rs769391647 0.00002
NM_001130144.3(LTBP3):c.1315C>T (p.Arg439Trp) rs753093986 0.00002
NM_001130144.3(LTBP3):c.1634G>A (p.Arg545His) rs986091498 0.00002
NM_001130144.3(LTBP3):c.2416T>A (p.Ser806Thr) rs974030785 0.00002
NM_001130144.3(LTBP3):c.241C>T (p.Arg81Trp) rs371878166 0.00002
NM_001130144.3(LTBP3):c.440C>T (p.Ala147Val) rs370789621 0.00002
NM_001130144.3(LTBP3):c.918C>A (p.Ser306Arg) rs771290855 0.00002
NM_001130144.3(LTBP3):c.939G>C (p.Gln313His) rs761852134 0.00002
NM_001130144.3(LTBP3):c.1025C>T (p.Pro342Leu) rs1856674742 0.00001
NM_001130144.3(LTBP3):c.1191C>A (p.Asp397Glu) rs1856644303 0.00001
NM_001130144.3(LTBP3):c.1196C>T (p.Pro399Leu) rs764981765 0.00001
NM_001130144.3(LTBP3):c.136G>T (p.Ala46Ser) rs766420288 0.00001
NM_001130144.3(LTBP3):c.144G>C (p.Glu48Asp) rs559277223 0.00001
NM_001130144.3(LTBP3):c.1495C>G (p.Gln499Glu) rs1274704456 0.00001
NM_001130144.3(LTBP3):c.160G>A (p.Gly54Ser) rs368975107 0.00001
NM_001130144.3(LTBP3):c.1993G>T (p.Ala665Ser) rs769389218 0.00001
NM_001130144.3(LTBP3):c.2004C>G (p.His668Gln) rs756791055 0.00001
NM_001130144.3(LTBP3):c.2055C>G (p.Cys685Trp) rs1208038518 0.00001
NM_001130144.3(LTBP3):c.22G>A (p.Ala8Thr) rs1856868902 0.00001
NM_001130144.3(LTBP3):c.2455A>G (p.Arg819Gly) rs771624185 0.00001
NM_001130144.3(LTBP3):c.2533A>G (p.Asn845Asp) rs1181954332 0.00001
NM_001130144.3(LTBP3):c.2537G>A (p.Gly846Asp) rs769073809 0.00001
NM_001130144.3(LTBP3):c.2564G>C (p.Gly855Ala) rs937188963 0.00001
NM_001130144.3(LTBP3):c.2596+6G>A rs775117463 0.00001
NM_001130144.3(LTBP3):c.2728G>A (p.Val910Met) rs761462890 0.00001
NM_001130144.3(LTBP3):c.311C>T (p.Thr104Met) rs1442604022 0.00001
NM_001130144.3(LTBP3):c.3292G>A (p.Val1098Ile) rs1005265947 0.00001
NM_001130144.3(LTBP3):c.3478G>A (p.Asp1160Asn) rs762718826 0.00001
NM_001130144.3(LTBP3):c.3628+5G>A rs908115215 0.00001
NM_001130144.3(LTBP3):c.3629-3C>T rs1246072463 0.00001
NM_001130144.3(LTBP3):c.3674G>A (p.Ser1225Asn) rs141017996 0.00001
NM_001130144.3(LTBP3):c.3676G>A (p.Gly1226Ser) rs1445499882 0.00001
NM_001130144.3(LTBP3):c.431C>T (p.Ala144Val) rs746544643 0.00001
NM_001130144.3(LTBP3):c.439G>A (p.Ala147Thr) rs771952262 0.00001
NM_001130144.3(LTBP3):c.449G>T (p.Gly150Val) rs1856727052 0.00001
NM_001130144.3(LTBP3):c.467C>G (p.Pro156Arg) rs759947049 0.00001
NM_001130144.3(LTBP3):c.674C>T (p.Pro225Leu) rs773254858 0.00001
NM_001130144.3(LTBP3):c.712G>C (p.Ala238Pro) rs1241393064 0.00001
NC_000011.10:g.65553887_65553904dup
NC_000011.9:g.(?_65306531)_(65325450_?)dup
NC_000011.9:g.(?_65306779)_(65307119_?)dup
NC_000011.9:g.(?_65318577)_(65321871_?)del
NC_000011.9:g.(?_65319447)_(65320635_?)del
NC_000011.9:g.(?_65320311)_(65325430_?)dup
NM_001130144.3(LTBP3):c.1001G>A (p.Arg334His)
NM_001130144.3(LTBP3):c.1001G>C (p.Arg334Pro) rs750231928
NM_001130144.3(LTBP3):c.1015G>A (p.Ala339Thr)
NM_001130144.3(LTBP3):c.1021T>C (p.Cys341Arg)
NM_001130144.3(LTBP3):c.1071C>T (p.Asn357=)
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.1080_1085dup (p.Pro362_Gly363insMetPro)
NM_001130144.3(LTBP3):c.1085C>T (p.Pro362Leu)
NM_001130144.3(LTBP3):c.1097G>A (p.Arg366His)
NM_001130144.3(LTBP3):c.1102G>A (p.Gly368Ser)
NM_001130144.3(LTBP3):c.1108T>G (p.Cys370Gly)
NM_001130144.3(LTBP3):c.1126T>A (p.Ser376Thr)
NM_001130144.3(LTBP3):c.1133G>T (p.Arg378Leu)
NM_001130144.3(LTBP3):c.1138G>C (p.Val380Leu)
NM_001130144.3(LTBP3):c.1148C>G (p.Pro383Arg)
NM_001130144.3(LTBP3):c.1196C>A (p.Pro399Gln)
NM_001130144.3(LTBP3):c.1198GAG[1] (p.Glu401del) rs1856643872
NM_001130144.3(LTBP3):c.1220G>A (p.Arg407His)
NM_001130144.3(LTBP3):c.1239C>G (p.His413Gln) rs772094176
NM_001130144.3(LTBP3):c.1267C>T (p.Leu423=)
NM_001130144.3(LTBP3):c.1274G>A (p.Arg425His)
NM_001130144.3(LTBP3):c.127G>A (p.Gly43Arg)
NM_001130144.3(LTBP3):c.128G>A (p.Gly43Glu) rs759902304
NM_001130144.3(LTBP3):c.128G>C (p.Gly43Ala) rs759902304
NM_001130144.3(LTBP3):c.1292G>A (p.Ser431Asn)
NM_001130144.3(LTBP3):c.1312_1313delinsAT (p.Ala438Met)
NM_001130144.3(LTBP3):c.1316G>A (p.Arg439Gln)
NM_001130144.3(LTBP3):c.1325G>A (p.Arg442His) rs959220350
NM_001130144.3(LTBP3):c.1344C>T (p.Thr448=)
NM_001130144.3(LTBP3):c.1345G>A (p.Ala449Thr)
NM_001130144.3(LTBP3):c.1354A>G (p.Lys452Glu) rs1590782835
NM_001130144.3(LTBP3):c.1372G>A (p.Gly458Arg)
NM_001130144.3(LTBP3):c.1378G>A (p.Gly460Arg) rs2135153807
NM_001130144.3(LTBP3):c.1400A>G (p.His467Arg)
NM_001130144.3(LTBP3):c.1406C>T (p.Thr469Met)
NM_001130144.3(LTBP3):c.1412C>T (p.Thr471Ile) rs2135153763
NM_001130144.3(LTBP3):c.1419G>A (p.Gln473=)
NM_001130144.3(LTBP3):c.1422C>T (p.Gly474=)
NM_001130144.3(LTBP3):c.1423G>A (p.Glu475Lys)
NM_001130144.3(LTBP3):c.1441T>C (p.Phe481Leu)
NM_001130144.3(LTBP3):c.1456G>C (p.Gly486Arg) rs148883568
NM_001130144.3(LTBP3):c.146G>A (p.Arg49Gln)
NM_001130144.3(LTBP3):c.1480C>T (p.Pro494Ser)
NM_001130144.3(LTBP3):c.1498G>T (p.Ala500Ser)
NM_001130144.3(LTBP3):c.1505C>G (p.Pro502Arg)
NM_001130144.3(LTBP3):c.1526A>G (p.Glu509Gly)
NM_001130144.3(LTBP3):c.1534G>A (p.Val512Met)
NM_001130144.3(LTBP3):c.1537A>G (p.Thr513Ala)
NM_001130144.3(LTBP3):c.1546T>C (p.Ser516Pro)
NM_001130144.3(LTBP3):c.1557T>A (p.Ser519Arg)
NM_001130144.3(LTBP3):c.1586C>T (p.Pro529Leu)
NM_001130144.3(LTBP3):c.1588A>G (p.Thr530Ala)
NM_001130144.3(LTBP3):c.1609C>T (p.Arg537Trp) rs753655134
NM_001130144.3(LTBP3):c.1612C>T (p.Pro538Ser)
NM_001130144.3(LTBP3):c.161G>A (p.Gly54Asp)
NM_001130144.3(LTBP3):c.1621+4A>C
NM_001130144.3(LTBP3):c.1624C>G (p.Leu542Val)
NM_001130144.3(LTBP3):c.1630T>C (p.Ser544Pro)
NM_001130144.3(LTBP3):c.1640C>G (p.Ser547Trp)
NM_001130144.3(LTBP3):c.1655G>A (p.Arg552His)
NM_001130144.3(LTBP3):c.1660T>C (p.Phe554Leu) rs1229419620
NM_001130144.3(LTBP3):c.1662C>A (p.Phe554Leu)
NM_001130144.3(LTBP3):c.1682C>T (p.Ser561Phe)
NM_001130144.3(LTBP3):c.1684C>G (p.Arg562Gly)
NM_001130144.3(LTBP3):c.1699A>G (p.Ile567Val)
NM_001130144.3(LTBP3):c.1700T>C (p.Ile567Thr)
NM_001130144.3(LTBP3):c.170T>C (p.Leu57Pro)
NM_001130144.3(LTBP3):c.1712A>G (p.Gln571Arg) rs1856594821
NM_001130144.3(LTBP3):c.1721-5C>A
NM_001130144.3(LTBP3):c.1721-7C>G
NM_001130144.3(LTBP3):c.1734C>G (p.Cys578Trp) rs750943686
NM_001130144.3(LTBP3):c.1746G>C (p.Gln582His)
NM_001130144.3(LTBP3):c.1772T>C (p.Val591Ala)
NM_001130144.3(LTBP3):c.1780C>T (p.Pro594Ser) rs2135143369
NM_001130144.3(LTBP3):c.1784C>A (p.Pro595His)
NM_001130144.3(LTBP3):c.1793_1795del (p.Ser598del)
NM_001130144.3(LTBP3):c.1801T>C (p.Cys601Arg)
NM_001130144.3(LTBP3):c.1810G>A (p.Gly604Ser) rs557335712
NM_001130144.3(LTBP3):c.1817G>A (p.Arg606Gln)
NM_001130144.3(LTBP3):c.1837T>C (p.Tyr613His)
NM_001130144.3(LTBP3):c.1846+3G>A
NM_001130144.3(LTBP3):c.1846+6C>G rs760385371
NM_001130144.3(LTBP3):c.1846+6C>T rs760385371
NM_001130144.3(LTBP3):c.188A>G (p.Lys63Arg)
NM_001130144.3(LTBP3):c.1897A>C (p.Met633Leu)
NM_001130144.3(LTBP3):c.189G>T (p.Lys63Asn)
NM_001130144.3(LTBP3):c.189GGT[1] (p.Val65del)
NM_001130144.3(LTBP3):c.190G>A (p.Val64Met)
NM_001130144.3(LTBP3):c.1999C>A (p.Pro667Thr)
NM_001130144.3(LTBP3):c.1999C>T (p.Pro667Ser)
NM_001130144.3(LTBP3):c.2014G>A (p.Asp672Asn)
NM_001130144.3(LTBP3):c.2035T>C (p.Phe679Leu)
NM_001130144.3(LTBP3):c.2042G>A (p.Gly681Asp)
NM_001130144.3(LTBP3):c.2057A>G (p.Asn686Ser)
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) rs376337792
NM_001130144.3(LTBP3):c.2065C>T (p.Pro689Ser)
NM_001130144.3(LTBP3):c.2077C>A (p.Leu693Ile)
NM_001130144.3(LTBP3):c.2090G>A (p.Arg697Gln)
NM_001130144.3(LTBP3):c.2095C>G (p.Pro699Ala)
NM_001130144.3(LTBP3):c.20C>T (p.Ala7Val)
NM_001130144.3(LTBP3):c.2123G>T (p.Arg708Leu)
NM_001130144.3(LTBP3):c.2375G>A (p.Gly792Glu)
NM_001130144.3(LTBP3):c.2386G>A (p.Asp796Asn)
NM_001130144.3(LTBP3):c.2408C>T (p.Thr803Met)
NM_001130144.3(LTBP3):c.2414G>A (p.Gly805Glu)
NM_001130144.3(LTBP3):c.2417C>T (p.Ser806Phe)
NM_001130144.3(LTBP3):c.2434C>G (p.Leu812Val)
NM_001130144.3(LTBP3):c.2434C>T (p.Leu812Phe)
NM_001130144.3(LTBP3):c.2443T>A (p.Tyr815Asn)
NM_001130144.3(LTBP3):c.2446C>T (p.His816Tyr)
NM_001130144.3(LTBP3):c.2449C>G (p.Leu817Val) rs2135131479
NM_001130144.3(LTBP3):c.2456G>A (p.Arg819Lys) rs1856241830
NM_001130144.3(LTBP3):c.2462G>A (p.Arg821Gln)
NM_001130144.3(LTBP3):c.2471G>A (p.Cys824Tyr)
NM_001130144.3(LTBP3):c.2472C>T (p.Cys824=)
NM_001130144.3(LTBP3):c.2473G>C (p.Glu825Gln)
NM_001130144.3(LTBP3):c.2475G>A (p.Glu825=) rs1465792342
NM_001130144.3(LTBP3):c.2477-12_2477-3dup rs766331896
NM_001130144.3(LTBP3):c.2477-3C>T
NM_001130144.3(LTBP3):c.247A>G (p.Ser83Gly)
NM_001130144.3(LTBP3):c.2481T>G (p.Ile827Met)
NM_001130144.3(LTBP3):c.2482G>C (p.Asp828His)
NM_001130144.3(LTBP3):c.2497C>T (p.Pro833Ser)
NM_001130144.3(LTBP3):c.2511T>G (p.Ile837Met)
NM_001130144.3(LTBP3):c.2514G>A (p.Gly838=)
NM_001130144.3(LTBP3):c.2516G>A (p.Gly839Asp) rs1856229058
NM_001130144.3(LTBP3):c.2539T>C (p.Ser847Pro) rs1856228372
NM_001130144.3(LTBP3):c.2549G>A (p.Cys850Tyr)
NM_001130144.3(LTBP3):c.2551C>T (p.Leu851Phe)
NM_001130144.3(LTBP3):c.2569C>T (p.Arg857Trp)
NM_001130144.3(LTBP3):c.2570G>A (p.Arg857Gln)
NM_001130144.3(LTBP3):c.2574G>A (p.Leu858=)
NM_001130144.3(LTBP3):c.2630G>A (p.Cys877Tyr) rs746567483
NM_001130144.3(LTBP3):c.2632C>T (p.Leu878Phe) rs1006876203
NM_001130144.3(LTBP3):c.2715C>A (p.His905Gln)
NM_001130144.3(LTBP3):c.2722G>C (p.Glu908Gln)
NM_001130144.3(LTBP3):c.2725+6T>C
NM_001130144.3(LTBP3):c.2727G>A (p.Glu909=)
NM_001130144.3(LTBP3):c.2746AAG[1] (p.Lys917del) rs749595547
NM_001130144.3(LTBP3):c.2762T>G (p.Leu921Arg)
NM_001130144.3(LTBP3):c.2770G>C (p.Asp924His)
NM_001130144.3(LTBP3):c.2788G>C (p.Asp930His)
NM_001130144.3(LTBP3):c.2804C>T (p.Thr935Ile) rs2135125492
NM_001130144.3(LTBP3):c.2807A>G (p.Asn936Ser)
NM_001130144.3(LTBP3):c.2809G>T (p.Val937Leu)
NM_001130144.3(LTBP3):c.2818C>A (p.Gln940Lys)
NM_001130144.3(LTBP3):c.2825G>A (p.Cys942Tyr) rs780427114
NM_001130144.3(LTBP3):c.2894-3C>T
NM_001130144.3(LTBP3):c.2894C>T (p.Ala965Val)
NM_001130144.3(LTBP3):c.2908C>T (p.Leu970Phe)
NM_001130144.3(LTBP3):c.2917G>A (p.Asp973Asn)
NM_001130144.3(LTBP3):c.298A>G (p.Thr100Ala)
NM_001130144.3(LTBP3):c.314G>C (p.Gly105Ala)
NM_001130144.3(LTBP3):c.314G>T (p.Gly105Val)
NM_001130144.3(LTBP3):c.3280C>T (p.Pro1094Ser)
NM_001130144.3(LTBP3):c.3293T>A (p.Val1098Asp)
NM_001130144.3(LTBP3):c.3293T>C (p.Val1098Ala)
NM_001130144.3(LTBP3):c.329T>C (p.Val110Ala)
NM_001130144.3(LTBP3):c.3305G>C (p.Gly1102Ala)
NM_001130144.3(LTBP3):c.3310T>C (p.Tyr1104His) rs1335050541
NM_001130144.3(LTBP3):c.3322T>C (p.Cys1108Arg)
NM_001130144.3(LTBP3):c.3399G>T (p.Glu1133Asp) rs2135118725
NM_001130144.3(LTBP3):c.3400C>T (p.Arg1134Trp)
NM_001130144.3(LTBP3):c.3424C>A (p.Arg1142Ser)
NM_001130144.3(LTBP3):c.3437G>C (p.Gly1146Ala)
NM_001130144.3(LTBP3):c.3445G>A (p.Ala1149Thr) rs1375139471
NM_001130144.3(LTBP3):c.3449G>A (p.Gly1150Asp) rs1404901505
NM_001130144.3(LTBP3):c.3458C>T (p.Ala1153Val)
NM_001130144.3(LTBP3):c.3481G>A (p.Asp1161Asn) rs1377615305
NM_001130144.3(LTBP3):c.3482A>G (p.Asp1161Gly)
NM_001130144.3(LTBP3):c.3482_3484dup (p.Asp1161_Cys1162insTyr)
NM_001130144.3(LTBP3):c.3494G>A (p.Arg1165His)
NM_001130144.3(LTBP3):c.3496_3498del (p.Gln1166del)
NM_001130144.3(LTBP3):c.3499G>A (p.Gly1167Ser)
NM_001130144.3(LTBP3):c.3503_3504delinsTT (p.Arg1168Leu) rs2135118245
NM_001130144.3(LTBP3):c.3518A>G (p.Gln1173Arg)
NM_001130144.3(LTBP3):c.3527C>T (p.Pro1176Leu) rs889758877
NM_001130144.3(LTBP3):c.3529T>C (p.Cys1177Arg)
NM_001130144.3(LTBP3):c.3533C>T (p.Pro1178Leu)
NM_001130144.3(LTBP3):c.3535C>G (p.Pro1179Ala) rs2135118126
NM_001130144.3(LTBP3):c.3536C>T (p.Pro1179Leu)
NM_001130144.3(LTBP3):c.3541G>A (p.Gly1181Ser)
NM_001130144.3(LTBP3):c.3545C>T (p.Ala1182Val)
NM_001130144.3(LTBP3):c.3546G>T (p.Ala1182=)
NM_001130144.3(LTBP3):c.3551C>T (p.Ser1184Phe)
NM_001130144.3(LTBP3):c.3554A>G (p.His1185Arg)
NM_001130144.3(LTBP3):c.3565T>G (p.Ser1189Ala)
NM_001130144.3(LTBP3):c.3573C>A (p.Ser1191Arg) rs145046881
NM_001130144.3(LTBP3):c.3578G>A (p.Ser1193Asn)
NM_001130144.3(LTBP3):c.3602C>T (p.Pro1201Leu)
NM_001130144.3(LTBP3):c.3619C>G (p.Pro1207Ala)
NM_001130144.3(LTBP3):c.361G>A (p.Gly121Ser)
NM_001130144.3(LTBP3):c.3628G>C (p.Asp1210His) rs777097028
NM_001130144.3(LTBP3):c.3633G>C (p.Glu1211Asp)
NM_001130144.3(LTBP3):c.3644A>G (p.Glu1215Gly) rs1855958309
NM_001130144.3(LTBP3):c.3645GGA[1] (p.Glu1216del)
NM_001130144.3(LTBP3):c.3658G>A (p.Glu1220Lys)
NM_001130144.3(LTBP3):c.3674G>T (p.Ser1225Ile)
NM_001130144.3(LTBP3):c.367T>G (p.Cys123Gly)
NM_001130144.3(LTBP3):c.3680G>A (p.Arg1227His) rs1855956308
NM_001130144.3(LTBP3):c.3689C>G (p.Pro1230Arg) rs751706023
NM_001130144.3(LTBP3):c.3689_3692dup (p.Pro1232fs)
NM_001130144.3(LTBP3):c.3691C>T (p.Arg1231Trp)
NM_001130144.3(LTBP3):c.3722G>C (p.Gly1241Ala)
NM_001130144.3(LTBP3):c.3744_3745inv (p.Arg1249Gly)
NM_001130144.3(LTBP3):c.3749C>T (p.Ala1250Val)
NM_001130144.3(LTBP3):c.3756C>T (p.Cys1252=)
NM_001130144.3(LTBP3):c.3757G>A (p.Val1253Met)
NM_001130144.3(LTBP3):c.3761-2A>G
NM_001130144.3(LTBP3):c.3764T>C (p.Ile1255Thr)
NM_001130144.3(LTBP3):c.3765CGA[1] (p.Asp1256del)
NM_001130144.3(LTBP3):c.3769G>T (p.Glu1257Ter)
NM_001130144.3(LTBP3):c.3771G>C (p.Glu1257Asp)
NM_001130144.3(LTBP3):c.3776G>A (p.Arg1259Gln)
NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)
NM_001130144.3(LTBP3):c.3786C>G (p.Asn1262Lys)
NM_001130144.3(LTBP3):c.3793G>C (p.Gly1265Arg)
NM_001130144.3(LTBP3):c.3820G>A (p.Val1274Met)
NM_001130144.3(LTBP3):c.3824A>G (p.Asn1275Ser)
NM_001130144.3(LTBP3):c.3836C>T (p.Ser1279Phe)
NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)
NM_001130144.3(LTBP3):c.3842G>T (p.Arg1281Leu)
NM_001130144.3(LTBP3):c.3857C>T (p.Ala1286Val)
NM_001130144.3(LTBP3):c.3862T>C (p.Phe1288Leu)
NM_001130144.3(LTBP3):c.3866C>T (p.Ala1289Val)
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001130144.3(LTBP3):c.3878C>T (p.Pro1293Leu)
NM_001130144.3(LTBP3):c.3878_3907dup (p.Arg1302_Arg1303insProHisGlyAlaCysValProGlnArgArg)
NM_001130144.3(LTBP3):c.3883G>C (p.Gly1295Arg)
NM_001130144.3(LTBP3):c.3886G>A (p.Ala1296Thr)
NM_001130144.3(LTBP3):c.3900G>C (p.Gln1300His)
NM_001130144.3(LTBP3):c.3905G>A (p.Arg1302His)
NM_001130144.3(LTBP3):c.3905G>T (p.Arg1302Leu)
NM_001130144.3(LTBP3):c.3907C>A (p.Arg1303Ser)
NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)
NM_001130144.3(LTBP3):c.3910_*6del (p.Ter1304del) rs779871744
NM_001130144.3(LTBP3):c.398C>G (p.Pro133Arg)
NM_001130144.3(LTBP3):c.398C>T (p.Pro133Leu)
NM_001130144.3(LTBP3):c.409G>A (p.Gly137Arg) rs2135160170
NM_001130144.3(LTBP3):c.410G>A (p.Gly137Glu)
NM_001130144.3(LTBP3):c.412C>T (p.Arg138Cys)
NM_001130144.3(LTBP3):c.422A>C (p.Gln141Pro)
NM_001130144.3(LTBP3):c.422A>T (p.Gln141Leu)
NM_001130144.3(LTBP3):c.427C>A (p.Pro143Thr)
NM_001130144.3(LTBP3):c.427C>T (p.Pro143Ser)
NM_001130144.3(LTBP3):c.430G>A (p.Ala144Thr) rs181842110
NM_001130144.3(LTBP3):c.430G>T (p.Ala144Ser) rs181842110
NM_001130144.3(LTBP3):c.448G>A (p.Gly150Ser)
NM_001130144.3(LTBP3):c.44T>C (p.Met15Thr)
NM_001130144.3(LTBP3):c.454G>A (p.Gly152Ser)
NM_001130144.3(LTBP3):c.461C>T (p.Ser154Leu) rs2135159939
NM_001130144.3(LTBP3):c.466C>A (p.Pro156Thr)
NM_001130144.3(LTBP3):c.469G>A (p.Gly157Ser)
NM_001130144.3(LTBP3):c.496A>G (p.Thr166Ala)
NM_001130144.3(LTBP3):c.4C>T (p.Pro2Ser)
NM_001130144.3(LTBP3):c.502G>T (p.Ala168Ser) rs1856724698
NM_001130144.3(LTBP3):c.517G>T (p.Ala173Ser)
NM_001130144.3(LTBP3):c.520C>G (p.Pro174Ala)
NM_001130144.3(LTBP3):c.526G>A (p.Gly176Ser)
NM_001130144.3(LTBP3):c.529G>A (p.Asp177Asn)
NM_001130144.3(LTBP3):c.52_66del (p.Ala18_Gly22del)
NM_001130144.3(LTBP3):c.535G>A (p.Val179Met) rs1158791095
NM_001130144.3(LTBP3):c.538G>A (p.Ala180Thr)
NM_001130144.3(LTBP3):c.545A>C (p.Lys182Thr)
NM_001130144.3(LTBP3):c.559G>A (p.Ala187Thr)
NM_001130144.3(LTBP3):c.580C>T (p.Pro194Ser)
NM_001130144.3(LTBP3):c.607G>A (p.Ala203Thr)
NM_001130144.3(LTBP3):c.616G>A (p.Ala206Thr)
NM_001130144.3(LTBP3):c.620C>T (p.Ala207Val) rs1856718865
NM_001130144.3(LTBP3):c.626T>C (p.Leu209Pro)
NM_001130144.3(LTBP3):c.62C>A (p.Ala21Glu)
NM_001130144.3(LTBP3):c.641C>T (p.Pro214Leu)
NM_001130144.3(LTBP3):c.644G>C (p.Gly215Ala)
NM_001130144.3(LTBP3):c.656C>T (p.Ala219Val)
NM_001130144.3(LTBP3):c.65G>A (p.Gly22Glu)
NM_001130144.3(LTBP3):c.666G>T (p.Gln222His)
NM_001130144.3(LTBP3):c.677C>G (p.Pro226Arg)
NM_001130144.3(LTBP3):c.679G>C (p.Val227Leu)
NM_001130144.3(LTBP3):c.703C>T (p.Pro235Ser)
NM_001130144.3(LTBP3):c.704C>G (p.Pro235Arg)
NM_001130144.3(LTBP3):c.712G>T (p.Ala238Ser)
NM_001130144.3(LTBP3):c.722A>C (p.Gln241Pro)
NM_001130144.3(LTBP3):c.74C>T (p.Ala25Val)
NM_001130144.3(LTBP3):c.752A>G (p.Glu251Gly)
NM_001130144.3(LTBP3):c.756C>A (p.Ser252Arg)
NM_001130144.3(LTBP3):c.766T>A (p.Ser256Thr)
NM_001130144.3(LTBP3):c.767C>T (p.Ser256Phe) rs2135158279
NM_001130144.3(LTBP3):c.76CTG[14] (p.Leu32_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[15] (p.Leu31_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[5] (p.Leu31_Leu35del)
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.76CTG[8] (p.Leu34_Leu35del) rs71036212
NM_001130144.3(LTBP3):c.770A>G (p.Gln257Arg)
NM_001130144.3(LTBP3):c.776T>C (p.Leu259Pro)
NM_001130144.3(LTBP3):c.782C>A (p.Pro261Gln) rs765178350
NM_001130144.3(LTBP3):c.782C>G (p.Pro261Arg)
NM_001130144.3(LTBP3):c.7G>A (p.Gly3Arg) rs1394412946
NM_001130144.3(LTBP3):c.7G>C (p.Gly3Arg)
NM_001130144.3(LTBP3):c.802C>T (p.Pro268Ser) rs1325394664
NM_001130144.3(LTBP3):c.805C>G (p.Arg269Gly)
NM_001130144.3(LTBP3):c.811C>T (p.Pro271Ser) rs2135158119
NM_001130144.3(LTBP3):c.812C>G (p.Pro271Arg) rs768788797
NM_001130144.3(LTBP3):c.812C>T (p.Pro271Leu)
NM_001130144.3(LTBP3):c.814A>G (p.Thr272Ala)
NM_001130144.3(LTBP3):c.848C>G (p.Thr283Ser)
NM_001130144.3(LTBP3):c.876C>A (p.Asn292Lys)
NM_001130144.3(LTBP3):c.886G>C (p.Gly296Arg) rs1856688217
NM_001130144.3(LTBP3):c.892_893delinsCT (p.Thr298Leu) rs2135157538
NM_001130144.3(LTBP3):c.922G>A (p.Gly308Ser)
NM_001130144.3(LTBP3):c.926C>T (p.Thr309Ile) rs2135157407
NM_001130144.3(LTBP3):c.928G>A (p.Ala310Thr)
NM_001130144.3(LTBP3):c.942C>T (p.Ser314=)
NM_001130144.3(LTBP3):c.970+3G>A rs2135157236

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