ClinVar Miner

List of variants in gene DNM1 reported as uncertain significance by Ambry Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.2560C>T (p.Arg854Cys) rs757501966 0.00001
NM_004408.4(DNM1):c.2561G>A (p.Arg854His) rs781345149 0.00001
NM_004408.4(DNM1):c.1013T>C (p.Val338Ala)
NM_004408.4(DNM1):c.1028G>T (p.Arg343Leu)
NM_004408.4(DNM1):c.1042G>A (p.Gly348Arg)
NM_004408.4(DNM1):c.1769A>G (p.Asn590Ser)
NM_004408.4(DNM1):c.1801C>T (p.Arg601Trp)
NM_004408.4(DNM1):c.2144T>C (p.Met715Thr)
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2535-2A>G rs1564358627
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.919A>G (p.Ile307Val)

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