ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2X by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506

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