ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del
NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del
NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup
NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup
NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del
NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup
NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs) rs879254768
NM_000527.5(LDLR):c.1085del (p.Asp362fs) rs879254786
NM_000527.5(LDLR):c.1184_1185del (p.Val395fs) rs1060499922
NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs) rs1060499923
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+5G>T rs1060499924
NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs) rs879254883
NM_000527.5(LDLR):c.1377_1380del (p.His460fs) rs879254885
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter) rs730882103
NM_000527.5(LDLR):c.1533dup (p.Phe512fs) rs879254933
NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) rs879254419
NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs) rs1060499926
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer) rs879254977
NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter) rs879254980
NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter) rs1060499927
NM_000527.5(LDLR):c.1752del (p.Ile585fs) rs879255011
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2068del (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) rs369943481
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) rs1555808044
NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs) rs1555808111
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2390-1G>A rs879255193
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) rs875989891
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.318dup (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) rs879254496
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.472del (p.Ser158fs) rs879254538
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.578del (p.Asp193fs) rs879254580
NM_000527.5(LDLR):c.625_626dup (p.Ile210fs) rs879254599
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) rs1064792905
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
NM_000527.5(LDLR):c.881_882del (p.Lys294fs) rs879254704
NM_000527.5(LDLR):c.896del (p.Ala299fs) rs879254712
NM_000527.5(LDLR):c.917C>G (p.Ser306Ter) rs11547917
NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940_940+14del rs1057519665
NM_000527.5(LDLR):c.949G>T (p.Glu317Ter) rs746834464
NM_000527.5(LDLR):c.971del (p.Gly324fs) rs879254745

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