ClinVar Miner

List of variants studied for Finnish type amyloidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198252.3(GSN):c.513+19T>C rs79969850 0.00853
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
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_198252.3(GSN):c.186C>T (p.His62=) rs144551136 0.00175
NM_198252.3(GSN):c.886+19G>T rs200255784 0.00159
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) rs184844415 0.00086
NM_198252.3(GSN):c.197-4G>A rs375172023 0.00034
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_198252.3(GSN):c.1325+14G>A rs113863232 0.00021
NM_198252.3(GSN):c.-9-1943G>A rs568885924 0.00020
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) rs752572521 0.00020
NM_198252.3(GSN):c.1538G>A (p.Arg513His) rs148410442 0.00014
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) rs368537807 0.00012
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_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.856G>A (p.Gly286Ser) rs151155909 0.00009
NM_198252.3(GSN):c.-9-1951G>T rs772288409 0.00007
NM_198252.3(GSN):c.1485C>T (p.Ile495=) rs374982895 0.00007
NM_198252.3(GSN):c.1191+14G>A rs377308627 0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) rs138341672 0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) rs774085705 0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) rs371320840 0.00006
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met) rs375323203 0.00004
NM_198252.3(GSN):c.1416+17G>A rs747631468 0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) rs375902120 0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) rs1220983184 0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) rs148360076 0.00004
NM_198252.3(GSN):c.513+1G>A rs138677601 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_198252.3(GSN):c.1103G>A (p.Arg368Gln) rs781764487 0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) rs368079865 0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) rs370997492 0.00003
NM_198252.3(GSN):c.1932G>A (p.Thr644=) rs759980004 0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) rs766055612 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_198252.3(GSN):c.2040C>T (p.Ile680=) rs758909359 0.00002
NM_198252.3(GSN):c.1009C>T (p.Leu337=) rs528161256 0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) rs1468193571 0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=) rs199681748 0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) rs998869731 0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) rs368207411 0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) rs757684181 0.00001
NM_198252.3(GSN):c.1763-10C>T rs750829888 0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His) rs896776181 0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) rs545428148 0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) rs367933536 0.00001
NM_198252.3(GSN):c.393C>T (p.Asn131=) rs186654124 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=) rs765499763 0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) rs376060588 0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val) rs754268709 0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr) rs770943559 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) rs761334580 0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) rs1157815026 0.00001
NM_198252.3(GSN):c.-9-1942G>A rs1268467289
NM_198252.3(GSN):c.-9-1999_-9-1985del rs751499422
NM_198252.3(GSN):c.-9-2043C>G rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037del rs762432847
NM_198252.3(GSN):c.-9-2057_-9-2037dup rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup rs1371504521
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) rs146365204
NM_198252.3(GSN):c.1762+19G>A rs1274106245
NM_198252.3(GSN):c.1762+20del rs895358104
NM_198252.3(GSN):c.1850G>A (p.Arg617His) rs9696578
NM_198252.3(GSN):c.1887+11G>T rs147527479
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) rs2133938132
NM_198252.3(GSN):c.2137del (p.Asp713fs) rs750858951
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) rs138153246
NM_198252.3(GSN):c.397G>A (p.Val133Met) rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu) rs368197143
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) rs1355688870
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) rs756193920
NM_198252.3(GSN):c.886+19G>A rs200255784
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) rs751431867

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.