ClinVar Miner

List of variants in gene DNM2 reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
DNM2, 9-BP DEL, NT1652
DNM2, LYS558 DEL
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1135T>G (p.Phe379Val) rs397514735
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095

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