ClinVar Miner

List of variants reported as pathogenic for demyelinating hereditary motor and sensory neuropathy by Institute of Human Genetics,Cologne University

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344

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