ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_005548.2(KARS1):c.223-6del rs370077957
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415

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