ClinVar Miner

List of variants studied for amyloidosis by Amyloidosis Center, Boston University School of Medicine

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) rs1555631390
NM_000371.4(TTR):c.[239C>T];[424G>A]
NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu) rs2141288680
NM_198252.3(GSN):c.1267T>C (p.Tyr423His)

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