ClinVar Miner

List of variants studied for amyloidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000239.3(LYZ):c.*178C>T rs710794 0.89111
NM_021871.3(FGA):c.-58A>G rs2070011 0.65406
NM_000239.3(LYZ):c.*835C>T rs1384 0.40016
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000239.3(LYZ):c.*655G>T rs8612 0.10799
NM_198252.3(GSN):c.2115T>C (p.Phe705=) rs9102 0.07073
NM_000239.3(LYZ):c.-1C>T rs513342 0.06603
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) rs76463933 0.05893
NM_198252.3(GSN):c.1260C>T (p.Gly420=) rs2304393 0.05790
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) rs2230287 0.03231
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) rs77681311 0.02987
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) rs115224458 0.02654
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) rs11550199 0.01287
NM_000371.3(TTR):c.*345G>A rs58172837 0.01182
NM_198252.3(GSN):c.1239A>G (p.Thr413=) rs149375418 0.00861
NM_000239.3(LYZ):c.*461G>A rs531233279 0.00770
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_198252.3(GSN):c.196+7C>T rs146379508 0.00444
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_198252.3(GSN):c.1680C>T (p.Ser560=) rs73660439 0.00379
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_000039.3(APOA1):c.732C>G (p.Pro244=) rs5080 0.00368
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) rs9696578 0.00359
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_000239.3(LYZ):c.10C>G (p.Leu4Val) rs58131341 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025 0.00250
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_000239.3(LYZ):c.*890T>C rs188271229 0.00204
NM_000239.3(LYZ):c.*418C>A rs534565279 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000239.3(LYZ):c.*415G>A rs183441118 0.00159
NM_000239.3(LYZ):c.*413G>T rs193040437 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000239.3(LYZ):c.*169G>A rs568058282 0.00126
NM_000239.3(LYZ):c.*242C>A rs576522577 0.00113
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
NM_000239.3(LYZ):c.*191A>G rs183375295 0.00101
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) rs12718465 0.00091
NM_198252.3(GSN):c.*185G>A rs757682798 0.00065
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser) rs140770089 0.00058
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) rs147554026 0.00058
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) rs144434647 0.00057
NM_000239.3(LYZ):c.*608T>C rs192668989 0.00056
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) rs199759119 0.00043
NM_000239.3(LYZ):c.*300C>T rs919388445 0.00041
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) rs146956976 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) rs58750568 0.00033
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805 0.00031
NM_000039.3(APOA1):c.*19C>G rs187335584 0.00029
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) rs141510612 0.00029
NM_198252.3(GSN):c.1563C>T (p.Ser521=) rs140414249 0.00026
NM_198252.3(GSN):c.1098G>A (p.Val366=) rs201325199 0.00025
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) rs139832048 0.00025
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
NM_198252.3(GSN):c.*98T>A rs903037306 0.00021
NM_198252.3(GSN):c.-9-1967C>T rs372837702 0.00020
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_198252.3(GSN):c.1421G>A (p.Arg474His) rs142828669 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.3(TTR):c.*304C>T rs541989755 0.00016
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly) rs567372749 0.00016
NM_198252.3(GSN):c.754-11C>T rs374057474 0.00016
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000039.3(APOA1):c.*17C>T rs370532459 0.00014
NM_000371.3(TTR):c.*234G>C rs542619281 0.00014
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
NM_198252.3(GSN):c.1191+4C>T rs372713895 0.00014
NM_021871.4(FGA):c.*50T>G rs369606098 0.00013
NM_198252.3(GSN):c.1170C>T (p.Asp390=) rs147583697 0.00013
NM_198252.3(GSN):c.*126T>C rs886063411 0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_198252.3(GSN):c.2046G>A (p.Thr682=) rs747385746 0.00011
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_198252.3(GSN):c.*205G>A rs779431879 0.00010
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 0.00009
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000239.3(LYZ):c.*330C>T rs886049805 0.00007
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg) rs201105899 0.00007
NM_198252.3(GSN):c.126C>T (p.Asp42=) rs200027070 0.00007
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) rs371175865 0.00007
NM_000039.3(APOA1):c.9T>C (p.Ala3=) rs141383703 0.00006
NM_000239.3(LYZ):c.*426C>T rs980457915 0.00006
NM_000239.3(LYZ):c.*565G>T rs886049808 0.00006
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387 0.00006
NM_198252.3(GSN):c.1191+14G>A rs377308627 0.00006
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) rs750132751 0.00006
NM_000039.3(APOA1):c.-11G>A rs199729971 0.00005
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) rs766945413 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000239.3(LYZ):c.*331G>A rs762377090 0.00004
NM_000239.3(LYZ):c.*442T>G rs886049807 0.00004
NM_000239.3(LYZ):c.*866C>T rs959564680 0.00004
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter) rs764263034 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865 0.00004
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) rs142854368 0.00004
NM_198252.3(GSN):c.7G>T (p.Val3Leu) rs138068754 0.00004
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_000239.3(LYZ):c.*544C>T rs961590974 0.00003
NM_000239.3(LYZ):c.269G>A (p.Gly90Glu) rs141911537 0.00003
NM_000239.3(LYZ):c.272C>G (p.Ala91Gly) rs776898103 0.00003
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_021871.4(FGA):c.1718G>A (p.Arg573His) rs78506343 0.00003
NM_198252.3(GSN):c.-9-2026C>T rs1048849212 0.00003
NM_198252.3(GSN):c.1443C>T (p.Pro481=) rs200156774 0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His) rs769400986 0.00003
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) rs752698745 0.00003
NM_000039.3(APOA1):c.-29G>A rs1430134542 0.00002
NM_000039.3(APOA1):c.168G>A (p.Gln56=) rs760886281 0.00002
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000239.3(LYZ):c.*221C>T rs886049804 0.00002
NM_000239.3(LYZ):c.151A>T (p.Lys51Ter) rs367682582 0.00002
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala) rs199571440 0.00002
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_198252.3(GSN):c.228G>A (p.Ala76=) rs761824852 0.00002
NM_198252.3(GSN):c.723G>A (p.Ala241=) rs377624593 0.00002
NM_198252.3(GSN):c.886+12A>C rs201952723 0.00002
NM_000039.3(APOA1):c.116C>T (p.Ala39Val) rs746314593 0.00001
NM_000239.3(LYZ):c.*470C>T rs554855169 0.00001
NM_000239.3(LYZ):c.*891G>A rs1874912403 0.00001
NM_000371.4(TTR):c.*31G>A rs553309501 0.00001
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu) rs774664670 0.00001
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg) rs771429165 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150 0.00001
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329 0.00001
NM_198252.3(GSN):c.*194G>A rs886063412 0.00001
NM_198252.3(GSN):c.-9-2021G>A rs886063405 0.00001
NM_198252.3(GSN):c.1009C>T (p.Leu337=) rs528161256 0.00001
NM_198252.3(GSN):c.123C>T (p.Gly41=) rs774617795 0.00001
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) rs556563870 0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) rs777767455 0.00001
NM_198252.3(GSN):c.1942A>G (p.Met648Val) rs886063406 0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) rs770023727 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) rs373545875
NM_000039.3(APOA1):c.447G>A (p.Glu149=) rs1941542293
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp) rs769548576
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) rs1941530805
NM_000039.3(APOA1):c.705C>G (p.Leu235=) rs1941529555
NM_000239.3(LYZ):c.*122A>G rs1874886327
NM_000239.3(LYZ):c.*266G>A rs188313797
NM_000239.3(LYZ):c.*266G>C rs188313797
NM_000239.3(LYZ):c.*280_*289dup rs71094709
NM_000239.3(LYZ):c.*289_*290insTTTTTTTTTTTTT rs71094709
NM_000239.3(LYZ):c.*309G>A rs982245735
NM_000239.3(LYZ):c.*404G>T rs1874896191
NM_000239.3(LYZ):c.*440T>A rs886049806
NM_000239.3(LYZ):c.*521G>A rs567541896
NM_000239.3(LYZ):c.*565G>A rs886049808
NM_000239.3(LYZ):c.*735del rs148802204
NM_000239.3(LYZ):c.*771A>G rs1874909219
NM_000239.3(LYZ):c.*814C>A rs886049810
NM_000239.3(LYZ):c.415G>C (p.Val139Leu) rs367623154
NM_000239.3(LYZ):c.86del (p.Thr29fs) rs1565669113
NM_000371.3(TTR):c.-102G>T rs967658213
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.200+1G>A rs1567945731
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) rs2073528679
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_021871.4(FGA):c.*133G>A rs182736373
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr) rs1730710209
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151
NM_198252.3(GSN):c.*116_*117insG rs751044080
NM_198252.3(GSN):c.*116_*117insGTG rs751044080
NM_198252.3(GSN):c.*120_*121insG rs886063409
NM_198252.3(GSN):c.*124_*125insC rs886063410
NM_198252.3(GSN):c.*136dup rs71680051
NM_198252.3(GSN):c.*28G>A rs376801564
NM_198252.3(GSN):c.*97GT[11] rs147410423
NM_198252.3(GSN):c.*97GT[12] rs147410423
NM_198252.3(GSN):c.*97GT[13] rs147410423
NM_198252.3(GSN):c.*97_*98insGGTG rs886063408
NM_198252.3(GSN):c.-4C>G rs2059919681
NM_198252.3(GSN):c.-9-2066_-9-2060del rs1564468965
NM_198252.3(GSN):c.-9-2137C>T rs886063404
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) rs142034230
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) rs780840732
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) rs2063344146
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) rs886063407
NM_198252.3(GSN):c.231C>A (p.Ala77=) rs140734150
NM_198252.3(GSN):c.440T>C (p.Val147Ala) rs2061027102
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) rs2061035565
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) rs2061970047
NM_198252.3(GSN):c.998G>T (p.Gly333Val) rs1014328091

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