ClinVar Miner

List of variants in gene DNM2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091

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