ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B2 by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.753-16T>A rs7128234

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