ClinVar Miner

List of variants in gene TTR reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.201-3T>C
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.337-13T>C rs762691667
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=)

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