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 (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140

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