ClinVar Miner

List of variants studied for Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01241
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00212
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00112
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
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.387C>T (p.Cys129=) rs80333596 0.00076
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00066
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00058
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00053
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) rs61736853 0.00042
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn) rs139535571 0.00041
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00039
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) rs140282454 0.00036
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00021
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00016
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) rs143885233 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00013
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 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.472G>A (p.Gly158Arg) rs193247849 0.00010
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) rs142660660 0.00008
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00008
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln) rs370208609 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr) rs775159238 0.00007
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00007
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00007
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu) rs372468767 0.00007
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln) rs773234882 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln) rs150211735 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 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.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln) rs772332690 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00004
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00004
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00003
NM_002334.4(LRP4):c.1110G>T (p.Gln370His) rs757748871 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.1433G>A (p.Arg478His) rs1349507715 0.00003
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00003
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) rs777801967 0.00003
NM_002334.4(LRP4):c.2216-3C>T rs555994387 0.00003
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00003
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg) rs754071316 0.00003
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.3784G>A (p.Asp1262Asn) rs762687512 0.00003
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00003
NM_002334.4(LRP4):c.842G>A (p.Arg281His) rs146670859 0.00003
NM_002334.4(LRP4):c.1006G>A (p.Asp336Asn) rs766707622 0.00002
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) rs769661653 0.00002
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00002
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln) rs774924956 0.00002
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr) rs914781633 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.909C>G (p.Asn303Lys) rs373551790 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) rs767110056 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481 0.00001
NM_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln) rs569764064 0.00001
NM_002334.4(LRP4):c.1309+6G>T rs532952316 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) rs371763360 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.2176A>G (p.Thr726Ala) rs1158247723 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2258G>A (p.Arg753His) rs1188192419 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln) rs771948348 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.3266A>T (p.Asp1089Val) rs1941043196 0.00001
NM_002334.4(LRP4):c.3278-8C>T rs1941033938 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln) rs1190944217 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp) rs746573834 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro) rs780961481 0.00001
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln) rs139692226 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe) rs375220795 0.00001
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.5087+13A>G rs974667486 0.00001
NM_002334.4(LRP4):c.5125C>T (p.Arg1709Cys) rs748338944 0.00001
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu) rs757433016 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro) rs759491078 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174 0.00001
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) rs777229906 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002334.4(LRP4):c.860G>C (p.Trp287Ser) rs750372656 0.00001
NM_002334.4(LRP4):c.1008C>A (p.Asp336Glu)
NM_002334.4(LRP4):c.1051C>T (p.Pro351Ser)
NM_002334.4(LRP4):c.1079T>C (p.Val360Ala)
NM_002334.4(LRP4):c.1118G>A (p.Arg373Gln)
NM_002334.4(LRP4):c.1145C>T (p.Thr382Ile)
NM_002334.4(LRP4):c.116T>C (p.Leu39Pro)
NM_002334.4(LRP4):c.1183+6C>T
NM_002334.4(LRP4):c.1184-11G>A
NM_002334.4(LRP4):c.1184-14C>T
NM_002334.4(LRP4):c.1257G>A (p.Trp419Ter)
NM_002334.4(LRP4):c.1337A>G (p.Asn446Ser)
NM_002334.4(LRP4):c.136C>A (p.Pro46Thr)
NM_002334.4(LRP4):c.1370G>A (p.Arg457His)
NM_002334.4(LRP4):c.140C>T (p.Ala47Val)
NM_002334.4(LRP4):c.1438G>A (p.Glu480Lys)
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1497C>T (p.Gly499=)
NM_002334.4(LRP4):c.1508_1509del (p.Glu503fs)
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1616A>G (p.Asn539Ser)
NM_002334.4(LRP4):c.1732C>T (p.Arg578Cys)
NM_002334.4(LRP4):c.1792T>A (p.Phe598Ile)
NM_002334.4(LRP4):c.1794C>A (p.Phe598Leu)
NM_002334.4(LRP4):c.1834A>G (p.Met612Val) rs2539759458
NM_002334.4(LRP4):c.1891C>T (p.His631Tyr)
NM_002334.4(LRP4):c.191A>G (p.Asp64Gly)
NM_002334.4(LRP4):c.1993A>G (p.Ser665Gly)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.2092+18G>A rs770051637
NM_002334.4(LRP4):c.2096A>G (p.Lys699Arg)
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) rs1382055371
NM_002334.4(LRP4):c.214T>A (p.Ser72Thr)
NM_002334.4(LRP4):c.2212C>T (p.Gln738Ter)
NM_002334.4(LRP4):c.2215+5G>A rs1941370233
NM_002334.4(LRP4):c.2350G>A (p.Asp784Asn)
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) rs753109967
NM_002334.4(LRP4):c.2387C>T (p.Thr796Ile)
NM_002334.4(LRP4):c.2414C>A (p.Thr805Lys)
NM_002334.4(LRP4):c.2428G>A (p.Val810Ile) rs1246395979
NM_002334.4(LRP4):c.2441G>T (p.Ser814Ile)
NM_002334.4(LRP4):c.2516G>A (p.Arg839Gln)
NM_002334.4(LRP4):c.2527G>T (p.Ala843Ser)
NM_002334.4(LRP4):c.2554G>C (p.Val852Leu)
NM_002334.4(LRP4):c.257G>C (p.Arg86Pro)
NM_002334.4(LRP4):c.257G>T (p.Arg86Leu)
NM_002334.4(LRP4):c.2593G>T (p.Val865Leu)
NM_002334.4(LRP4):c.2594T>A (p.Val865Glu)
NM_002334.4(LRP4):c.2605A>G (p.Met869Val)
NM_002334.4(LRP4):c.2606T>C (p.Met869Thr)
NM_002334.4(LRP4):c.260C>T (p.Ser87Phe)
NM_002334.4(LRP4):c.2629G>T (p.Asp877Tyr)
NM_002334.4(LRP4):c.2665A>C (p.Met889Leu)
NM_002334.4(LRP4):c.2678G>T (p.Gly893Val)
NM_002334.4(LRP4):c.2718T>A (p.Asn906Lys)
NM_002334.4(LRP4):c.2734T>C (p.Tyr912His)
NM_002334.4(LRP4):c.2735A>G (p.Tyr912Cys)
NM_002334.4(LRP4):c.2741C>T (p.Ser914Phe)
NM_002334.4(LRP4):c.2776A>G (p.Thr926Ala)
NM_002334.4(LRP4):c.2779A>G (p.Ile927Val)
NM_002334.4(LRP4):c.2815G>A (p.Val939Met)
NM_002334.4(LRP4):c.281A>G (p.Asn94Ser)
NM_002334.4(LRP4):c.2859C>G (p.Leu953=)
NM_002334.4(LRP4):c.2899A>C (p.Ser967Arg)
NM_002334.4(LRP4):c.290A>T (p.Glu97Val)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=) rs1391979900
NM_002334.4(LRP4):c.2950G>A (p.Glu984Lys)
NM_002334.4(LRP4):c.2971G>C (p.Asp991His)
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3025G>A (p.Glu1009Lys)
NM_002334.4(LRP4):c.3135A>G (p.Pro1045=)
NM_002334.4(LRP4):c.3145A>C (p.Ser1049Arg)
NM_002334.4(LRP4):c.3159C>T (p.Phe1053=)
NM_002334.4(LRP4):c.3179G>A (p.Arg1060His)
NM_002334.4(LRP4):c.3226A>G (p.Ile1076Val)
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser) rs920291599
NM_002334.4(LRP4):c.3337T>C (p.Ser1113Pro)
NM_002334.4(LRP4):c.3338C>T (p.Ser1113Leu)
NM_002334.4(LRP4):c.3353TCA[1] (p.Ile1119del)
NM_002334.4(LRP4):c.3439C>T (p.Arg1147Trp)
NM_002334.4(LRP4):c.3469A>G (p.Met1157Val)
NM_002334.4(LRP4):c.3557_3558delinsTT (p.Trp1186Phe)
NM_002334.4(LRP4):c.3562G>A (p.Glu1188Lys)
NM_002334.4(LRP4):c.359G>A (p.Gly120Asp)
NM_002334.4(LRP4):c.3673C>G (p.Leu1225Val)
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.3704T>C (p.Ile1235Thr)
NM_002334.4(LRP4):c.3758A>G (p.Gln1253Arg)
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=) rs767492436
NM_002334.4(LRP4):c.3875A>C (p.Asn1292Thr)
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.3975G>C (p.Leu1325Phe)
NM_002334.4(LRP4):c.4006C>T (p.Pro1336Ser)
NM_002334.4(LRP4):c.4028G>C (p.Gly1343Ala)
NM_002334.4(LRP4):c.4096C>T (p.Arg1366Cys)
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.4118A>G (p.Asp1373Gly)
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys) rs2539727264
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4195G>A (p.Val1399Ile)
NM_002334.4(LRP4):c.4232G>A (p.Arg1411Gln)
NM_002334.4(LRP4):c.4258G>A (p.Glu1420Lys)
NM_002334.4(LRP4):c.4273C>T (p.Arg1425Ter)
NM_002334.4(LRP4):c.4294G>A (p.Gly1432Arg)
NM_002334.4(LRP4):c.4296G>T (p.Gly1432=)
NM_002334.4(LRP4):c.430+16G>A
NM_002334.4(LRP4):c.4309T>C (p.Trp1437Arg)
NM_002334.4(LRP4):c.431-13C>T
NM_002334.4(LRP4):c.436C>T (p.Arg146Cys)
NM_002334.4(LRP4):c.4373A>T (p.Asp1458Val)
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4525_4527del (p.Leu1509del)
NM_002334.4(LRP4):c.4527C>T (p.Leu1509=)
NM_002334.4(LRP4):c.4600G>A (p.Ala1534Thr)
NM_002334.4(LRP4):c.4715C>T (p.Thr1572Ile)
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4813G>A (p.Val1605Met)
NM_002334.4(LRP4):c.4837+11G>A
NM_002334.4(LRP4):c.4837+4G>A
NM_002334.4(LRP4):c.4846G>C (p.Ala1616Pro)
NM_002334.4(LRP4):c.4889C>T (p.Ala1630Val)
NM_002334.4(LRP4):c.4948C>T (p.Leu1650Phe)
NM_002334.4(LRP4):c.4972G>A (p.Ala1658Thr)
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr) rs768284053
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.5021C>T (p.Thr1674Ile)
NM_002334.4(LRP4):c.5047A>G (p.Thr1683Ala)
NM_002334.4(LRP4):c.5053C>T (p.Arg1685Trp)
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5137G>A (p.Ala1713Thr)
NM_002334.4(LRP4):c.5200A>G (p.Ile1734Val)
NM_002334.4(LRP4):c.5244-7C>G
NM_002334.4(LRP4):c.5331G>T (p.Lys1777Asn)
NM_002334.4(LRP4):c.5354C>G (p.Ala1785Gly)
NM_002334.4(LRP4):c.5375A>C (p.Tyr1792Ser)
NM_002334.4(LRP4):c.5381_5384del (p.Lys1794fs)
NM_002334.4(LRP4):c.5398C>T (p.His1800Tyr)
NM_002334.4(LRP4):c.5402A>T (p.Asn1801Ile)
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.5441G>A (p.Cys1814Tyr) rs760515633
NM_002334.4(LRP4):c.5461G>T (p.Ala1821Ser)
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.5476C>G (p.Leu1826Val)
NM_002334.4(LRP4):c.5476C>T (p.Leu1826Phe)
NM_002334.4(LRP4):c.548-18C>G rs779705585
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg) rs142462686
NM_002334.4(LRP4):c.5500G>T (p.Gly1834Trp)
NM_002334.4(LRP4):c.5618_5631dup (p.Thr1878fs)
NM_002334.4(LRP4):c.565C>T (p.Pro189Ser)
NM_002334.4(LRP4):c.5689C>T (p.Arg1897Cys)
NM_002334.4(LRP4):c.5693A>G (p.Lys1898Arg)
NM_002334.4(LRP4):c.599A>T (p.Tyr200Phe)
NM_002334.4(LRP4):c.59C>G (p.Ala20Gly)
NM_002334.4(LRP4):c.59C>T (p.Ala20Val)
NM_002334.4(LRP4):c.619A>G (p.Ile207Val)
NM_002334.4(LRP4):c.632A>T (p.Asp211Val)
NM_002334.4(LRP4):c.694C>A (p.Arg232Ser) rs770467186
NM_002334.4(LRP4):c.694C>T (p.Arg232Cys) rs770467186
NM_002334.4(LRP4):c.796+8G>A
NM_002334.4(LRP4):c.805A>G (p.Met269Val)
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr) rs2539772275
NM_002334.4(LRP4):c.842G>T (p.Arg281Leu) rs146670859
NM_002334.4(LRP4):c.850C>T (p.Arg284Cys)
NM_002334.4(LRP4):c.970T>C (p.Cys324Arg)
NM_002334.4(LRP4):c.970del (p.Cys324fs)

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