ClinVar Miner

List of variants in gene TTR studied for Charcot-Marie-Tooth disease

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Total variants: 28
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HGVS dbSNP
NM_000371.3(TTR):c.*3_*11del rs143948820
NM_000371.3(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.337-18G>C rs36204272
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
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.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.3(TTR):c.70-19G>A rs548935944
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.4(TTR):c.201-3T>C rs0
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs0
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.337-13T>C rs762691667
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.4(TTR):c.75C>T (p.Thr25=) rs0
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458

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