ClinVar Miner

List of variants reported as likely benign for amyloidosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_198252.3(GSN):c.513+19T>C rs79969850 0.00853
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_198252.3(GSN):c.597C>T (p.Asn199=) rs146329975 0.00258
NM_198252.3(GSN):c.1416+16C>T rs116723395 0.00233
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_198252.3(GSN):c.186C>T (p.His62=) rs144551136 0.00175
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 0.00167
NM_198252.3(GSN):c.886+19G>T rs200255784 0.00159
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_004048.4(B2M):c.67+19C>T rs185185288 0.00091
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) rs184844415 0.00086
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_198252.3(GSN):c.197-4G>A rs375172023 0.00034
NM_000039.3(APOA1):c.315C>T (p.Gly105=) rs148950234 0.00032
NM_004048.4(B2M):c.68-13C>T rs149900092 0.00032
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_198252.3(GSN):c.1563C>T (p.Ser521=) rs140414249 0.00026
NM_198252.3(GSN):c.285C>T (p.His95=) rs142155964 0.00026
NM_000039.3(APOA1):c.555G>C (p.Thr185=) rs143182884 0.00023
NM_198252.3(GSN):c.1325+14G>A rs113863232 0.00021
NM_198252.3(GSN):c.-9-1943G>A rs568885924 0.00020
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073 0.00019
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000039.3(APOA1):c.*17C>T rs370532459 0.00014
NM_000039.3(APOA1):c.200+19G>A rs377408912 0.00013
NM_000039.3(APOA1):c.726G>C (p.Leu242=) rs567268961 0.00013
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) rs144099356 0.00012
NM_198252.3(GSN):c.2046G>A (p.Thr682=) rs747385746 0.00011
NM_198252.3(GSN):c.2082C>T (p.Thr694=) rs368986042 0.00011
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_198252.3(GSN):c.276C>T (p.Ala92=) rs548138013 0.00009
NM_198252.3(GSN):c.303C>T (p.Phe101=) rs373779982 0.00009
NM_198252.3(GSN):c.741C>T (p.Ala247=) rs751823302 0.00009
NM_198252.3(GSN):c.-9-1951G>T rs772288409 0.00007
NM_198252.3(GSN):c.126C>T (p.Asp42=) rs200027070 0.00007
NM_198252.3(GSN):c.1485C>T (p.Ile495=) rs374982895 0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_000371.4(TTR):c.411C>T (p.Ser137=) rs759874627 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_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000371.4(TTR):c.437A>G (p.Lys146Arg) rs536294863 0.00005
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) rs757899657 0.00004
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter) rs764263034 0.00004
NM_000239.3(LYZ):c.434G>A (p.Gly145Asp) rs762616173 0.00004
NM_000371.4(TTR):c.375C>T (p.Tyr125=) rs749079577 0.00004
NM_198252.3(GSN):c.1416+17G>A rs747631468 0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) rs142854368 0.00004
NM_198252.3(GSN):c.754-8C>T rs757725237 0.00004
NM_198252.3(GSN):c.886+10A>G rs768148669 0.00004
NM_000039.3(APOA1):c.483G>C (p.Leu161=) rs747245248 0.00003
NM_000239.3(LYZ):c.272C>G (p.Ala91Gly) rs776898103 0.00003
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_000371.4(TTR):c.405C>G (p.Ser135=) rs760153126 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_198252.3(GSN):c.1932G>A (p.Thr644=) rs759980004 0.00003
NM_000371.4(TTR):c.441A>G (p.Glu147=) rs370056601 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_198252.3(GSN):c.2040C>T (p.Ile680=) rs758909359 0.00002
NM_198252.3(GSN):c.723G>A (p.Ala241=) rs377624593 0.00002
NM_000039.3(APOA1):c.126C>T (p.Tyr42=) rs1591331259 0.00001
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000371.4(TTR):c.200+15A>G rs1485205541 0.00001
NM_000371.4(TTR):c.200+17C>A rs767333203 0.00001
NM_000371.4(TTR):c.200+20T>C rs2073494875 0.00001
NM_000371.4(TTR):c.201-16C>T rs941725460 0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=) rs991342939 0.00001
NM_000371.4(TTR):c.315C>A (p.Ser105=) rs11541787 0.00001
NM_000371.4(TTR):c.336+8T>C rs1176464590 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_000371.4(TTR):c.69+12T>C rs368643414 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000371.4(TTR):c.75C>T (p.Thr25=) rs750051388 0.00001
NM_004048.4(B2M):c.67+12C>T rs771780544 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 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.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.1763-10C>T rs750829888 0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) rs770023727 0.00001
NM_198252.3(GSN):c.393C>T (p.Asn131=) rs186654124 0.00001
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) rs373545875
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000239.3(LYZ):c.*735del rs148802204
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.108T>A (p.Val36=)
NM_000371.4(TTR):c.114T>C (p.Asp38=) rs779619795
NM_000371.4(TTR):c.117T>A (p.Ala39=)
NM_000371.4(TTR):c.120C>T (p.Val40=)
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.147C>A (p.Ala49=)
NM_000371.4(TTR):c.156G>A (p.Val52=) rs2144406775
NM_000371.4(TTR):c.160A>C (p.Arg54=)
NM_000371.4(TTR):c.174T>C (p.Asp58=)
NM_000371.4(TTR):c.180C>T (p.Thr60=)
NM_000371.4(TTR):c.195C>T (p.Ala65=) rs571695233
NM_000371.4(TTR):c.198T>G (p.Ser66=)
NM_000371.4(TTR):c.200+12A>G
NM_000371.4(TTR):c.200+14G>T rs2144406929
NM_000371.4(TTR):c.200+7del
NM_000371.4(TTR):c.200+8G>T rs761675505
NM_000371.4(TTR):c.201-10C>A
NM_000371.4(TTR):c.201-10C>T rs1380934184
NM_000371.4(TTR):c.201-4A>G
NM_000371.4(TTR):c.201-7C>T
NM_000371.4(TTR):c.201-9A>C
NM_000371.4(TTR):c.21C>T (p.Leu7=) rs2144405313
NM_000371.4(TTR):c.223C>T (p.Leu75=) rs2073510448
NM_000371.4(TTR):c.249A>G (p.Glu83=)
NM_000371.4(TTR):c.300G>A (p.Lys100=) rs2144409644
NM_000371.4(TTR):c.327G>A (p.Glu109=) rs876661395
NM_000371.4(TTR):c.333A>G (p.Ala111=)
NM_000371.4(TTR):c.336+10C>G
NM_000371.4(TTR):c.337-12C>T
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.337-16C>G
NM_000371.4(TTR):c.381T>C (p.Ile127=)
NM_000371.4(TTR):c.387C>A (p.Ala129=)
NM_000371.4(TTR):c.390G>A (p.Leu130=)
NM_000371.4(TTR):c.390G>C (p.Leu130=)
NM_000371.4(TTR):c.391C>T (p.Leu131=) rs121918073
NM_000371.4(TTR):c.396C>T (p.Ser132=) rs2144414307
NM_000371.4(TTR):c.423C>T (p.Val141=) rs557320637
NM_000371.4(TTR):c.45A>G (p.Val15=)
NM_000371.4(TTR):c.54T>C (p.Ser18=)
NM_000371.4(TTR):c.57G>A (p.Glu19=)
NM_000371.4(TTR):c.66T>C (p.Pro22=) rs2144405395
NM_000371.4(TTR):c.69+10T>C rs1179187406
NM_000371.4(TTR):c.69+13G>C rs2073488528
NM_000371.4(TTR):c.69+7G>A rs1453023289
NM_000371.4(TTR):c.6T>G (p.Ala2=)
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-19G>T rs548935944
NM_000371.4(TTR):c.70-4C>T
NM_000371.4(TTR):c.70-5C>T rs757103675
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.70-9T>A
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr) rs758143691
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_198252.3(GSN):c.-9-1942G>A rs1268467289
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896
NM_198252.3(GSN):c.1762+19G>A rs1274106245
NM_198252.3(GSN):c.1762+20del rs895358104
NM_198252.3(GSN):c.1887+11G>T rs147527479
NM_198252.3(GSN):c.886+19G>A rs200255784

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.