ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease, dominant intermediate C by OMIM

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Total variants: 4
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HGVS dbSNP
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile) rs786204003
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del) rs786200893
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834

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