ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Fundacion Hipercolesterolemia Familiar

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
FH Cape Town 2
FH London 1
NM_000527.4(LDLR):c.1187-?_1586+?del
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1846-?_2311+?del
NM_000527.4(LDLR):c.2141-?_2311+?del
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2312-?_2389+?del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.314-?_940+?del
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1046dup (p.Arg350fs) rs1555804545
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1067del (p.Asp356fs) rs879254778
NM_000527.5(LDLR):c.108del (p.Asp36fs) rs879254409
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.114dup (p.Cys39fs) rs879254410
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) rs879254412
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.5(LDLR):c.1208del (p.Phe403fs) rs879254832
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) rs879254867
NM_000527.5(LDLR):c.1336del (p.Leu446fs) rs879254868
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.140_153del (p.Asp47fs) rs1555802291
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs) rs879254896
NM_000527.5(LDLR):c.1434del (p.Leu479fs) rs879254899
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs) rs879254923
NM_000527.5(LDLR):c.1502dup (p.Asp502fs) rs879254924
NM_000527.5(LDLR):c.1587-5_1618del rs1555805930
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter) rs1555805947
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter) rs879254957
NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter) rs879254958
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1705+1del rs879254992
NM_000527.5(LDLR):c.1706-2A>C rs878854027
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter) rs1555806455
NM_000527.5(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs) rs879255032
NM_000527.5(LDLR):c.1845+1G>C
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.191-2delinsCT rs879254432
NM_000527.5(LDLR):c.1988-2A>T rs879255101
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) rs879255109
NM_000527.5(LDLR):c.2011del (p.Thr671fs) rs1555807356
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter) rs879255114
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2063dup (p.Asn688fs) rs879255128
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) rs879255133
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2184del (p.Arg728fs) rs879255157
NM_000527.5(LDLR):c.2207dup (p.Arg737fs) rs879255164
NM_000527.5(LDLR):c.2266del (p.Thr756fs) rs879255169
NM_000527.5(LDLR):c.2270del (p.Pro757fs) rs1131692223
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs) rs1555808143
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.232del (p.Arg78fs) rs879254442
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2390-1G>C rs879255193
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.5(LDLR):c.2544dup (p.Ser849fs) rs879255222
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) rs879254453
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.338_353del (p.Glu113fs) rs879254480
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs) rs879254387
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.440_450dup (p.Ala151fs) rs1555803254
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.518del (p.Cys173fs) rs879254559
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter) rs748672083
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.67+1G>T rs762417023
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.671_675del (p.Asp224fs) rs1555803455
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.817+2T>G rs879254686
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.874del (p.Leu292fs) rs879254700
NM_000527.5(LDLR):c.884del (p.Val295fs) rs879254705
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.916_919dup (p.Asp307fs) rs879254718
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) rs776421777
NM_000527.5(LDLR):c.91_104del (p.Glu31fs) rs1555802259
NM_000527.5(LDLR):c.928dup (p.Ile310fs) rs1555803912
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter) rs879254725
NM_000527.5(LDLR):c.969del (p.Gly324fs) rs879254744
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5(LDLR):c.987C>A (p.Cys329Ter) rs1555804467
NM_000527.5(LDLR):c.9del (p.Trp4fs) rs879254384

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