ClinVar Miner

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

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Gene type:
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Total variants: 63
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HGVS dbSNP
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-136C>T rs879254374
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-139C>G rs879254371
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.407A>T (p.Asp136Val) rs879254516
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_001195798.2(LDLR):c.1054T>A (p.Cys352Ser) rs879254769
NM_001195798.2(LDLR):c.105_110del (p.Asp36_Gly37del) rs1555802270
NM_001195798.2(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) rs879254780
NM_001195798.2(LDLR):c.1130G>T (p.Cys377Phe) rs879254801
NM_001195798.2(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_001195798.2(LDLR):c.1633G>T (p.Gly545Trp) rs879254965
NM_001195798.2(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_001195798.2(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_001195798.2(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_001195798.2(LDLR):c.1942T>C (p.Ser648Pro) rs879255079
NM_001195798.2(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_001195798.2(LDLR):c.2413G>A (p.Gly805Arg) rs879255204
NM_001195798.2(LDLR):c.28T>A (p.Trp10Arg) rs879254386
NM_001195798.2(LDLR):c.986G>T (p.Cys329Phe) rs761954844
NM_001195800.2(LDLR):c.314-1820C>G rs756613387
NM_001195800.2(LDLR):c.314-1854_314-1852del rs879254602
NM_001195800.2(LDLR):c.314-2013C>G rs763998635
NM_001195800.2(LDLR):c.314-2046C>T rs879254524
NM_001195800.2(LDLR):c.314-754C>A rs879254671
NM_001195800.2(LDLR):c.314-817_314-731del rs1555803644

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