ClinVar Miner

List of variants in gene EHMT1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.2198del (p.Lys733fs) rs1951232337
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.3271dup (p.Leu1091fs) rs1954886330
NM_024757.5(EHMT1):c.3520del (p.Leu1174fs) rs1955070984
NM_024757.5(EHMT1):c.3524_3530del (p.Phe1175fs) rs1955071278
NM_024757.5(EHMT1):c.3688dup (p.Arg1230fs) rs2133154359
NM_024757.5(EHMT1):c.643-2A>G rs2135782623

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