ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge

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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP
FH Bologna 2
FH French Canadian 5
NM_000527.4(LDLR):c.1061-?_1845+?del
NM_000527.4(LDLR):c.1178del (p.Lys393fs) rs879254815
NM_000527.4(LDLR):c.1363del (p.Gln455fs) rs879254881
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1756del (p.Ser586fs) rs879255013
NM_000527.4(LDLR):c.1757C>A (p.Ser586Ter) rs1555806455
NM_000527.4(LDLR):c.1845+1del
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.1936del (p.Leu646fs) rs879255078
NM_000527.4(LDLR):c.1988-1G>A rs1555807335
NM_000527.4(LDLR):c.2312-?_*2514del
NM_000527.4(LDLR):c.2385del (p.Ile796fs) rs879255185
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.618_638del (p.Gly207_Ser213del) rs886039830
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1017dup (p.Cys340fs) rs879254757
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1060+1G>A rs879254771
NM_000527.5(LDLR):c.1061-1G>C rs879254774
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) rs879254411
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1186+1G>A rs730880131
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) rs879254919
NM_000527.5(LDLR):c.1586+2T>A rs879254945
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs) rs879254967
NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer) rs879254975
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1689dup (p.Asn564fs) rs879254988
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1705+1G>C rs875989926
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1846-1G>A rs879255051
NM_000527.5(LDLR):c.1934dup (p.Asn645fs) rs879255076
NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) rs879255131
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+86C>G rs587776886
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.236dup (p.Asn80fs) rs879254443
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs) rs879255198
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.310_313del (p.Cys104fs) rs879254463
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.369_393del (p.Arg124fs) rs879254497
NM_000527.5(LDLR):c.382_385del (p.Cys128fs) rs879254504
NM_000527.5(LDLR):c.424_430del (p.Ser142fs) rs879254521
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.668_681dup (p.Glu228fs) rs1555803424
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) rs746091400
NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) rs879254658
NM_000527.5(LDLR):c.77_78del (p.Arg26fs) rs879254400
NM_000527.5(LDLR):c.818-2A>G
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.940+2T>C rs875989912
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_001195798.2(LDLR):c.1372_1373AG[1] (p.Arg458fs) rs879254884
NM_001195798.2(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_001195798.2(LDLR):c.2199_2200CA[1] (p.Thr734fs) rs879255163
NM_001195798.2(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_001195798.2(LDLR):c.2478del (p.Val827fs) rs747344293
NM_001195800.2(LDLR):c.314-1811del rs879254633
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-2121TC[2] rs879254496
NM_001195803.2(LDLR):c.1606+164del rs879255112
NM_001195803.2(LDLR):c.1606+241del rs879255135
Single allele
c.(1845+1_1846-1)_(*2514_?)del
c.(2311+1_2312-1)_*807del
c.(817+1_818-1)_(1186+1_1187-1)del
c.(?_-187)_(190+1_191-1)del
c.(?_-187)_(67+1_68-1)del
c.(?_-187)_(940+1_941-1)del

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