ClinVar Miner

List of variants in gene TTR reported as uncertain significance for Cardiomyopathy

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.431A>G (p.Asn144Ser) rs144965179 0.00003
NM_000371.4(TTR):c.367C>T (p.Arg123Cys) rs371566010 0.00001
NM_000371.4(TTR):c.*8C>A
NM_000371.4(TTR):c.201-8C>A
NM_000371.4(TTR):c.231del (p.Leu78fs)
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.356A>C (p.Asp119Ala) rs761127889
NM_000371.4(TTR):c.358T>C (p.Ser120Pro) rs76591836
NM_000371.4(TTR):c.385G>T (p.Ala129Ser) rs267607159
NM_000371.4(TTR):c.62G>C (p.Gly21Ala) rs1469623969

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