ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B2 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002

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