ClinVar Miner

List of variants reported as pathogenic for ATTRV122I amyloidosis by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.3(TTR):c.173A>C (p.Asp58Ala)
NM_000371.3(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.3(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.3(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.3(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.3(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529

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