ClinVar Miner

List of variants studied for hyperlipoproteinemia by Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_174936.4(PCSK9):c.-331C>A rs778796405 0.00026
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
FH Vancouver 4
NC_000019.10:g.11089343C>T rs549995837
NC_000019.10:g.11089409C>T rs875989887
NM_000527.4(LDLR):c.1187-?_1586+?del
NM_000527.4(LDLR):c.1587-?_1845+?del
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1846-?_2140+?dup
NM_000527.4(LDLR):c.191-?_1186+?dup
NM_000527.4(LDLR):c.2141-?_(2583_?)del
NM_000527.4(LDLR):c.2141-?_2311+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.314-?_1060+?del
NM_000527.4(LDLR):c.314-?_694+?del
NM_000527.4(LDLR):c.818-?_1186+?del
NM_000527.4(LDLR):c.941-?_1186+?dup
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1162del (p.His388fs) rs875989917
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) rs875989920
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) rs875989922
NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu) rs875989922
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs) rs875989927
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) rs875989928
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1845+11C>G rs370245937
NM_000527.5(LDLR):c.1845+915_2141-498del
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.191-2A>G rs544203837
NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) rs875989935
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.196_197del (p.Val66fs) rs875989889
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln) rs869320652
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2292del (p.Ile764fs) rs875989941
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter) rs875989943
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) rs875989891
NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) rs28942085
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) rs875989894
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.318del (p.Lys107fs) rs875989898
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) rs875989899
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.533A>T (p.Asp178Val) rs875989902
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer) rs875989908
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.940+2T>C rs875989912

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