ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_020956.2(PRX):c.*2494del rs797045102
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934

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