ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001130089.1(KARS1):c.307-6del rs370077957
NM_001130089.1(KARS1):c.307-7_307-6del rs370077957
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) rs4875950
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_016156.5(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578
NM_016156.5(MTMR2):c.570+11T>C rs182582445
NM_016156.5(MTMR2):c.80+13C>T rs139510268
NM_030973.3(MED25):c.1483-7C>T rs2017698

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