ClinVar Miner

List of variants reported as likely pathogenic for Familial hypercholesterolemias

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Total variants: 65
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HGVS dbSNP
NC_000019.9:g.(?_11233840)_(11234030_?)del
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056_1060+3del rs879254770
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1186+2T>G rs779921498
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1357_1359-37del
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1867dup (p.Ile623fs) rs1555807206
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1987+2T>G
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.4(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.4(LDLR):c.2370_2389+20del
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.694+1G>A rs879254646
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.973T>C (p.Cys325Arg) rs1568600328
NM_000527.4(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_001195799.2(LDLR):c.190+2372_190+2374del rs1568591929
NM_001195800.2(LDLR):c.314-1817_314-1806dup rs879254626
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867

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