ClinVar Miner

List of variants in gene HINT1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396

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