ClinVar Miner

List of variants reported as pathogenic for amyloidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399

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.