ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate D by Athena Diagnostics Inc

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.646-10_650del rs863225026

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