ClinVar Miner

List of variants in gene DNM2 reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser) rs2146014404
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086

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