ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
NM_007289.4(MME):c.2072C>T (p.Ala691Val) rs1414684441
NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter) rs1332591469

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