ClinVar Miner

List of variants reported as uncertain significance for ATTRV122I amyloidosis

Included ClinVar conditions (2):
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Total variants: 40
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HGVS dbSNP
NM_000371.3(TTR):c.*143G>C rs545271394
NM_000371.3(TTR):c.*191C>T rs556327750
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.*304C>T rs541989755
NM_000371.3(TTR):c.*345G>A rs58172837
NM_000371.3(TTR):c.-61G>A rs770403822
NM_000371.3(TTR):c.116C>A (p.Ala39Asp)
NM_000371.3(TTR):c.11_13del (p.His4del)
NM_000371.3(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.3(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000371.3(TTR):c.127A>C (p.Ser43Arg)
NM_000371.3(TTR):c.136A>G (p.Ile46Val) rs773584864
NM_000371.3(TTR):c.137T>C (p.Ile46Thr)
NM_000371.3(TTR):c.140A>G (p.Asn47Ser) rs145551875
NM_000371.3(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.3(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.3(TTR):c.169G>A (p.Ala57Thr) rs1380447419
NM_000371.3(TTR):c.171_173TGA[1] (p.Asp59del) rs1555631238
NM_000371.3(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.3(TTR):c.200+1G>A rs1567945731
NM_000371.3(TTR):c.200+2T>C rs1567945737
NM_000371.3(TTR):c.220_221inv (p.Glu74Ser) rs730881168
NM_000371.3(TTR):c.229G>A (p.Gly77Arg)
NM_000371.3(TTR):c.239C>T (p.Thr80Ile) rs1254341785
NM_000371.3(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.3(TTR):c.25C>T (p.Leu9Phe) rs762243340
NM_000371.3(TTR):c.263T>C (p.Ile88Thr) rs1567946180
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.337-3T>C rs774027595
NM_000371.3(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.368G>A (p.Arg123His) rs148538950
NM_000371.3(TTR):c.370C>T (p.Arg124Cys) rs745834030
NM_000371.3(TTR):c.385G>A (p.Ala129Thr) rs267607159
NM_000371.3(TTR):c.406T>C (p.Tyr136His)
NM_000371.3(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_000371.3(TTR):c.62G>C (p.Gly21Ala) rs1469623969
NM_000371.3(TTR):c.69+1G>A
NM_000371.3(TTR):c.69G>C (p.Thr23=)

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