ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by GenomeConnect, ClinGen

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_003172.4(SURF1):c.588+1G>A rs1219762677

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