ClinVar Miner

List of variants in gene TTR reported as likely pathogenic for ATTRV122I amyloidosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_000371.3(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.3(TTR):c.128G>A (p.Ser43Asn)
NM_000371.3(TTR):c.160A>G (p.Arg54Gly)
NM_000371.3(TTR):c.206C>G (p.Thr69Ser) rs1555631387
NM_000371.3(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) rs121918096
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083

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