ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000902.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_000902.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182

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