ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, X-linked dominant, 6

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Total variants: 5
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HGVS dbSNP
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.751-10A>G rs372774822

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