ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4H by Institute of Human Genetics, University of Goettingen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.789C>G (p.His263Gln) rs757469397 0.00001
NM_001370298.3(FGD4):c.1573dup (p.Ser525fs) rs2540702114

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