ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188

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