ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B3 by Department of Medical Basic Sciences, Neurosciences and Sense Organs, University of Bari

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_002972.4(SBF1):c.2288G>A (p.Arg763His) rs200624784

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