ClinVar Miner

List of variants in gene DNM2 reported as likely pathogenic

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.1241A>G (p.Lys414Arg) rs199927590 0.00011
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
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.1091G>T (p.Arg364Leu)
NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu) rs121909089
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser) rs2146014404
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
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.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1565G>T (p.Arg522Leu) rs587783595
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005361.3(DNM2):c.1781G>A (p.Arg594Lys)
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.2204T>C (p.Ile735Thr) rs2073249488

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