ClinVar Miner

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

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Total variants: 100
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HGVS dbSNP
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1061A>C (p.Asp354Ala) rs755449669
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.4(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.4(LDLR):c.1091G>C (p.Cys364Ser) rs879254788
NM_000527.4(LDLR):c.1117G>T (p.Gly373Cys) rs879254796
NM_000527.4(LDLR):c.1151_1159del (p.Gln384_Asp386del) rs879254806
NM_000527.4(LDLR):c.1177A>C (p.Lys393Gln) rs1060499921
NM_000527.4(LDLR):c.1187-10_1272dup rs1555805127
NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1223A>T (p.Glu408Val) rs879254838
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
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.1529C>T (p.Thr510Met) rs755154048
NM_000527.4(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
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.1721G>T (p.Arg574Leu) rs777188764
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1748A>G (p.His583Arg) rs879255007
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1822C>T (p.Pro608Ser) rs879255034
NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.4(LDLR):c.1860G>C (p.Trp620Cys) rs875989933
NM_000527.4(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2396T>G (p.Leu799Arg) rs879255196
NM_000527.4(LDLR):c.2407T>C (p.Cys803Arg) rs1060499930
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>T (p.Asp90Tyr) rs749038326
NM_000527.4(LDLR):c.300C>A (p.Asp100Glu) rs766709484
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.383G>C (p.Cys128Ser) rs879254506
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.4(LDLR):c.515A>G (p.Asp172Gly) rs879254555
NM_000527.4(LDLR):c.527G>T (p.Gly176Val) rs879254563
NM_000527.4(LDLR):c.529T>C (p.Ser177Pro) rs1060499919
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.4(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.4(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.981C>A (p.His327Gln) rs1060499933
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1204_1206TTC[1] (p.Phe403del) rs879254830
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-2139_314-2119del rs879254484

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