ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 0.00008
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.200C>T (p.Thr67Ile) rs1337448484 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.4(LDLR):c.-286C>G rs989307060 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) rs879255085 0.00003
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) rs199766976 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00003
NM_000527.4(LDLR):c.-153C>T rs879254366 0.00002
NM_000527.5(LDLR):c.-23A>C rs763282380 0.00002
NM_000527.5(LDLR):c.-26G>T rs930509187 0.00002
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1162C>A (p.His388Asn) rs764551797 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1187-7C>A rs773740254 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.226G>C (p.Gly76Arg) rs574337291 0.00002
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) rs149237737 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.395G>A (p.Arg132Gln) rs751519676 0.00002
NM_000527.5(LDLR):c.608A>G (p.His203Arg) rs774600508 0.00002
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) rs942568624 0.00002
NM_000527.5(LDLR):c.988A>C (p.Asn330His) rs730882095 0.00002
NM_000527.4(LDLR):c.-102A>G rs1357531646 0.00001
NM_000527.4(LDLR):c.-115T>G rs1164871419 0.00001
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.4(LDLR):c.-162G>C rs934014113 0.00001
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) rs960032925 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.118A>G (p.Ile40Val) rs765969972 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala) rs879254920 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.153G>C (p.Glu51Asp) rs772188884 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) rs757672647 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr) rs1484331319 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.2347A>C (p.Lys783Gln) rs769318961 0.00001
NM_000527.5(LDLR):c.239A>G (p.Asn80Ser) rs1173004910 0.00001
NM_000527.5(LDLR):c.2416G>T (p.Val806Phe) rs745429866 0.00001
NM_000527.5(LDLR):c.242G>A (p.Arg81His) rs1299591218 0.00001
NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp) rs752936229 0.00001
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) rs774858755 0.00001
NM_000527.5(LDLR):c.42G>C (p.Leu14Phe) rs369608025 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.620G>A (p.Gly207Asp) rs759737884 0.00001
NM_000527.5(LDLR):c.68-9C>G rs1284807471 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) rs72658857 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.817+5G>C rs770636985 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.940+4A>C rs768247312 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000527.5(LDLR):c.962A>G (p.Asn321Ser) rs2077360926 0.00001
NR_163945.1(LDLR-AS1):n.302G>T rs934415028 0.00001
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-107T>C rs1568582310
NM_000527.4(LDLR):c.-120C>A rs875989886
NM_000527.4(LDLR):c.-122C>T rs1568582299
NM_000527.4(LDLR):c.-133C>T rs2077055227
NM_000527.4(LDLR):c.-139C>T rs879254371
NM_000527.4(LDLR):c.-142C>G rs879254370
NM_000527.4(LDLR):c.-169G>C rs1230170597
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-88G>A
NM_000527.4(LDLR):c.-89C>T
NM_000527.4(LDLR):c.-94G>T rs1212116636
NM_000527.5(LDLR):c.-23A>G rs763282380
NM_000527.5(LDLR):c.-45A>T rs2147186240
NM_000527.5(LDLR):c.-48A>G
NM_000527.5(LDLR):c.-55_-52del rs2077055920
NM_000527.5(LDLR):c.-74del
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) rs2077362818
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1127A>T (p.Lys376Met) rs2077377185
NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp) rs752951310
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg) rs2077378748
NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) rs2077379274
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro) rs879254825
NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe) rs2077406646
NM_000527.5(LDLR):c.122C>T (p.Ser41Phe) rs567126042
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys) rs2077193966
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe) rs2077409172
NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr)
NM_000527.5(LDLR):c.1271C>T (p.Pro424Leu) rs868801795
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1306G>A (p.Val436Met) rs2147247608
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.132G>C (p.Trp44Cys) rs1555802287
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1369G>C (p.Asp457His)
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.145A>C (p.Ser49Arg) rs2077194647
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1492G>C (p.Val498Leu)
NM_000527.5(LDLR):c.1516G>C (p.Val506Leu) rs373848925
NM_000527.5(LDLR):c.1533A>T (p.Leu511Phe) rs1568604780
NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys) rs1555805507
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) rs774337050
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.1583A>G (p.His528Arg) rs1489999751
NM_000527.5(LDLR):c.1603G>C (p.Asp535His)
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) rs879254960
NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile) rs776225771
NM_000527.5(LDLR):c.1615C>T (p.Pro539Ser) rs1222664147
NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr) rs2077459016
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1649T>G (p.Val550Gly) rs2077459810
NM_000527.5(LDLR):c.1663C>A (p.Leu555Met) rs2077460352
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala) rs1600733170
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys) rs934496989
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser)
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) rs2077473508
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) rs544456198
NM_000527.5(LDLR):c.1782C>G (p.Asn594Lys) rs763027570
NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu) rs879255021
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.181G>A (p.Glu61Lys) rs2077195468
NM_000527.5(LDLR):c.1845+5G>C rs2077476213
NM_000527.5(LDLR):c.1845+6G>T
NM_000527.5(LDLR):c.1846-8C>G rs1600742028
NM_000527.5(LDLR):c.1846-9C>A rs1568610732
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1880C>G (p.Ala627Gly) rs875989934
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) rs2077524048
NM_000527.5(LDLR):c.1889G>C (p.Ser630Thr) rs2077524086
NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg) rs1292632022
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.191-3T>G rs2077229353
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1954A>T (p.Met652Leu) rs730882111
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1987+5G>A rs2077527479
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly) rs1057519652
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2103C>T (p.Gly701=) rs2147266491
NM_000527.5(LDLR):c.2123T>C (p.Met708Thr) rs373839317
NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del) rs2077535269
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg) rs1218776502
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2147A>C (p.Glu716Ala) rs2147272755
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp) rs1568614490
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2207T>G (p.Val736Gly)
NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala) rs2147273100
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) rs1484331319
NM_000527.5(LDLR):c.2269C>G (p.Pro757Ala) rs1568614801
NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu) rs748540948
NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg) rs759440817
NM_000527.5(LDLR):c.2308C>G (p.Gln770Glu) rs763625913
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro) rs754328605
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser) rs2077661446
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg)
NM_000527.5(LDLR):c.2442del (p.Lys816fs) rs2147287002
NM_000527.5(LDLR):c.2452A>G (p.Ile818Val) rs2147287069
NM_000527.5(LDLR):c.2497G>A (p.Glu833Lys) rs1568619741
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.2536_2538del (p.Ser846del)
NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser) rs2077690044
NM_000527.5(LDLR):c.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2561G>A (p.Ser854Asn) rs2077714879
NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr) rs2077714879
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) rs775803775
NM_000527.5(LDLR):c.293G>C (p.Gly98Ala) rs2077232672
NM_000527.5(LDLR):c.314-6C>G rs2147223016
NM_000527.5(LDLR):c.317C>G (p.Pro106Arg) rs1365623011
NM_000527.5(LDLR):c.364A>C (p.Ile122Leu)
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) rs2077268697
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) rs929536329
NM_000527.5(LDLR):c.380T>C (p.Val127Ala)
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) rs2077270167
NM_000527.5(LDLR):c.431C>G (p.Pro144Arg)
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.449C>A (p.Pro150His)
NM_000527.5(LDLR):c.462G>C (p.Gln154His) rs2077272207
NM_000527.5(LDLR):c.46C>G (p.Leu16Val) rs2077058105
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) rs2077273342
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.547C>T (p.Arg183Cys) rs757292254
NM_000527.5(LDLR):c.56C>G (p.Ala19Gly) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.593C>T (p.Ser198Leu) rs748672083
NM_000527.5(LDLR):c.635C>T (p.Ser212Phe) rs1435097227
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.639C>G (p.Ser213Arg) rs760616999
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly) rs2077279531
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) rs2077280086
NM_000527.5(LDLR):c.663C>G (p.Asp221Glu) rs2077280675
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.67+5G>T rs372349543
NM_000527.5(LDLR):c.67+6G>T
NM_000527.5(LDLR):c.689A>T (p.Asn230Ile) rs2077283326
NM_000527.5(LDLR):c.695-10T>G
NM_000527.5(LDLR):c.695-5T>A
NM_000527.5(LDLR):c.712C>G (p.Pro238Ala) rs376963526
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser) rs2077300176
NM_000527.5(LDLR):c.792G>A (p.Met264Ile) rs1200173530
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.817+6C>T
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.893T>C (p.Met298Thr)
NM_000527.5(LDLR):c.899G>A (p.Arg300Lys) rs2077313724
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
NM_000527.5(LDLR):c.929T>A (p.Ile310Asn) rs879254722
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.936G>T (p.Glu312Asp) rs2077315472
NM_000527.5(LDLR):c.940+3G>A rs1568598062
NM_000527.5(LDLR):c.944C>T (p.Thr315Ile) rs2077360211
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) rs567080879
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) rs72658860
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686
NM_000527.5(LDLR):c.988A>G (p.Asn330Asp) rs730882095
NR_163945.1(LDLR-AS1):n.328G>C rs17249141

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