ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_006096.3(NDRG1):c.64-6T>C rs2272653
NM_016156.5(MTMR2):c.1131C>T (p.Thr377=) rs566204
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110

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