ClinVar Miner

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

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Total variants: 77
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HGVS dbSNP
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1013G>T (p.Cys338Phe) rs879254754
NM_000527.4(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
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.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1361C>A (p.Thr454Asn) rs879254879
NM_000527.4(LDLR):c.1436T>C (p.Leu479Pro) rs879254900
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1664T>C (p.Leu555Pro) rs879254978
NM_000527.4(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1749C>G (p.His583Gln) rs879255009
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.4(LDLR):c.1868_1870TCA[1] (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2054C>A (p.Pro685Gln) rs28942084
NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.4(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.4(LDLR):c.362_376del (p.Cys121_Gln125del) rs1555803186
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.451_453del (p.Ala151del) rs879254531
NM_000527.4(LDLR):c.470G>A (p.Ser157Asn) rs1555803280
NM_000527.4(LDLR):c.479G>T (p.Cys160Phe) rs879254541
NM_000527.4(LDLR):c.532G>A (p.Asp178Asn) rs879254565
NM_000527.4(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.4(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.4(LDLR):c.662A>T (p.Asp221Val) rs373822756
NM_000527.4(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.4(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.4(LDLR):c.672_683dup (p.Asp224_Asp227dup) rs1555803414
NM_000527.4(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.4(LDLR):c.677C>G (p.Ser226Cys) rs879254636
NM_000527.4(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Glu228_Glu229insSerGlyLysProAspCys) rs1555803471
NM_000527.4(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys) rs879254641
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.4(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.4(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.4(LDLR):c.987C>G (p.Cys329Trp) rs1555804467

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