ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
Single allele

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